RareResearch.AI · WFS1 Molecular Atlas
Atlas Dashboard
First open structured map of pathogenic Wolfram syndrome variants — AlphaFold structure, AlphaMissense pathogenicity, DynaMut2 stability, ClinVar evidence, and interactive 3D viewers.
97.7%
85 of 87 pathogenic & likely-pathogenic WFS1 missense variants leave the fold intact (|ΔΔG| < 2 kcal/mol) — 97.7%.
Most pathogenic WFS1 missense variants do not gross-misfold — they break specific local interactions while the fold stays intact. Therapeutic implication: the majority of carriers are likely small-molecule rescuable rather than gene-therapy candidates.
Cards complete
2085
of prioritized variants
|ΔΔG| < 2 rate
97.5%
593 of 608 missense with a ΔΔG
Mean |ΔΔG|
0.65
kcal/mol
High-AM rate
31.4%
362 cards with AM > 0.564
Type
Category
Domain
ClinVar
Topology
2085 of 2085 variants
W700RSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-2.17
AM
1.000
pLDDT
90
Cat 2 · Destabilizing
G834DSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.63
AM
0.999
pLDDT
83
Cat 3/4 · Druggable
L693PSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.80
AM
0.999
pLDDT
87
Cat 3/4 · Druggable
A180PSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
0.66
AM
0.998
pLDDT
90
Cat 3/4 · Druggable
W678RSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.10
AM
0.997
pLDDT
83
Cat 3/4 · Druggable
L200PSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.36
AM
0.996
pLDDT
79
Cat 3/4 · Druggable
A307DSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.01
AM
0.995
pLDDT
60
Cat 3/4 · Druggable
W837CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.08
AM
0.995
pLDDT
79
Cat 3/4 · Druggable
C847RSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.96
AM
0.995
pLDDT
86
Cat 3/4 · Druggable
C673GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.31
AM
0.994
pLDDT
88
Cat 3/4 · Druggable
R177SSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.44
AM
0.994
pLDDT
91
Cat 3/4 · Druggable
A95DSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.47
AM
0.994
pLDDT
90
Cat 3/4 · Druggable
W837RSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.21
AM
0.992
pLDDT
79
Cat 3/4 · Druggable
G834SSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.20
AM
0.990
pLDDT
83
Cat 3/4 · Druggable
L303PSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.14
AM
0.990
pLDDT
68
Cat 3/4 · Druggable
D801ASource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.16
AM
0.989
pLDDT
84
Cat 3/4 · Druggable
S662PSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.14
AM
0.989
pLDDT
73
Cat 3/4 · Druggable
K836ESource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.41
AM
0.989
pLDDT
82
Cat 3/4 · Druggable
L833QSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.57
AM
0.986
pLDDT
86
Cat 3/4 · Druggable
F704LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.40
AM
0.986
pLDDT
90
Cat 3/4 · Druggable
G736DSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.91
AM
0.986
pLDDT
88
Cat 3/4 · Druggable
C765YSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.42
AM
0.985
pLDDT
89
Cat 3/4 · Druggable
N714ISource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.33
AM
0.985
pLDDT
87
Cat 3/4 · Druggable
I777SSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-2.99
AM
0.984
pLDDT
92
Cat 2 · Destabilizing
R697SSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.44
AM
0.983
pLDDT
85
Cat 3/4 · Druggable
R174SSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.17
AM
0.982
pLDDT
88
Cat 3/4 · Druggable
L814PSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.22
AM
0.981
pLDDT
88
Cat 3/4 · Druggable
A310PSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.02
AM
0.979
pLDDT
61
Cat 3/4 · Druggable
R805PSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.12
AM
0.977
pLDDT
91
Cat 3/4 · Druggable
W700LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.40
AM
0.976
pLDDT
90
Cat 3/4 · Druggable
F775LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.38
AM
0.975
pLDDT
94
Cat 3/4 · Druggable
L887RSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.03
AM
0.975
pLDDT
80
Cat 3/4 · Druggable
R177LSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.42
AM
0.973
pLDDT
91
Cat 3/4 · Druggable
L833RSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.53
AM
0.973
pLDDT
86
Cat 3/4 · Druggable
E776VSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.79
AM
0.970
pLDDT
93
Cat 3/4 · Druggable
C604RSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.37
AM
0.970
pLDDT
73
Cat 3/4 · Druggable
I777TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-2.51
AM
0.970
pLDDT
92
Cat 2 · Destabilizing
R697GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.50
AM
0.968
pLDDT
85
Cat 3/4 · Druggable
F879LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.40
AM
0.967
pLDDT
84
Cat 3/4 · Druggable
C755RSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.14
AM
0.965
pLDDT
84
Cat 3/4 · Druggable
W678GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-3.13
AM
0.964
pLDDT
83
Cat 2 · Destabilizing
S826NSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.46
AM
0.960
pLDDT
89
Cat 3/4 · Druggable
Y660CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.87
AM
0.960
pLDDT
63
Cat 3/4 · Druggable
L637PSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.52
AM
0.960
pLDDT
85
Cat 3/4 · Druggable
C850FSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.53
AM
0.958
pLDDT
74
Cat 3/4 · Druggable
K800NSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.46
AM
0.955
pLDDT
72
Cat 3/4 · Druggable
A874DSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.50
AM
0.953
pLDDT
84
Cat 3/4 · Druggable
G154SSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.72
AM
0.951
pLDDT
87
Cat 3/4 · Druggable
I688TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.46
AM
0.949
pLDDT
89
Cat 3/4 · Druggable
N714DSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.05
AM
0.947
pLDDT
87
Cat 3/4 · Druggable
G656CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.47
AM
0.946
pLDDT
49
Cat 5 · IDR excl.
I845TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-2.33
AM
0.944
pLDDT
89
Cat 2 · Destabilizing
W867CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.83
AM
0.942
pLDDT
66
Cat 3/4 · Druggable
T799ISource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.05
AM
0.942
pLDDT
68
Cat 3/4 · Druggable
A133VSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.51
AM
0.941
pLDDT
92
Cat 3/4 · Druggable
C742RSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
1.03
AM
0.941
pLDDT
78
Cat 3/4 · Druggable
P292LSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.16
AM
0.939
pLDDT
54
Cat 3/4 · Druggable
C742SSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.24
AM
0.938
pLDDT
78
Cat 3/4 · Druggable
A179TSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-2.09
AM
0.934
pLDDT
89
Cat 2 · Destabilizing
H766QSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.19
AM
0.934
pLDDT
89
Cat 3/4 · Druggable
K287NSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.78
AM
0.931
pLDDT
53
Cat 3/4 · Druggable
C742YSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.35
AM
0.930
pLDDT
78
Cat 3/4 · Druggable
G820VSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.04
AM
0.927
pLDDT
83
Cat 3/4 · Druggable
M683TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.03
AM
0.925
pLDDT
86
Cat 3/4 · Druggable
A874PSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.53
AM
0.912
pLDDT
84
Cat 3/4 · Druggable
V106ESource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.49
AM
0.912
pLDDT
93
Cat 3/4 · Druggable
T827ISource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.56
AM
0.912
pLDDT
88
Cat 3/4 · Druggable
T156KSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.56
AM
0.910
pLDDT
89
Cat 3/4 · Druggable
K843MSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.09
AM
0.903
pLDDT
87
Cat 3/4 · Druggable
G780DSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.96
AM
0.902
pLDDT
88
Cat 3/4 · Druggable
P838LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.16
AM
0.902
pLDDT
84
Cat 3/4 · Druggable
T778ISource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.05
AM
0.900
pLDDT
91
Cat 3/4 · Druggable
M683RSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.24
AM
0.899
pLDDT
86
Cat 3/4 · Druggable
P838ASource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.15
AM
0.892
pLDDT
84
Cat 3/4 · Druggable
V176MSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.35
AM
0.886
pLDDT
89
Cat 3/4 · Druggable
G831ASource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.15
AM
0.886
pLDDT
78
Cat 3/4 · Druggable
M731KSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.49
AM
0.886
pLDDT
85
Cat 3/4 · Druggable
C647WSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.04
AM
0.885
pLDDT
76
Cat 3/4 · Druggable
V176ASource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.37
AM
0.878
pLDDT
89
Cat 3/4 · Druggable
K186NSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.45
AM
0.871
pLDDT
84
Cat 3/4 · Druggable
N661TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.29
AM
0.870
pLDDT
71
Cat 3/4 · Druggable
I296TSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.85
AM
0.866
pLDDT
67
Cat 3/4 · Druggable
G728DSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.65
AM
0.865
pLDDT
86
Cat 3/4 · Druggable
Y291CSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
0.55
AM
0.865
pLDDT
65
Cat 3/4 · Druggable
N849KSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.06
AM
0.864
pLDDT
83
Cat 3/4 · Druggable
Q668PSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.24
AM
0.862
pLDDT
87
Cat 3/4 · Druggable
A806VSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.56
AM
0.862
pLDDT
91
Cat 3/4 · Druggable
D797ASource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.37
AM
0.859
pLDDT
65
Cat 3/4 · Druggable
R177HSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.11
AM
0.854
pLDDT
91
Cat 3/4 · Druggable
G98ESource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.13
AM
0.851
pLDDT
84
Cat 3/4 · Druggable
F884LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.06
AM
0.838
pLDDT
76
Cat 3/4 · Druggable
S835CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.32
AM
0.837
pLDDT
84
Cat 3/4 · Druggable
L645PSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.10
AM
0.827
pLDDT
84
Cat 3/4 · Druggable
R868PSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.72
AM
0.823
pLDDT
68
Cat 3/4 · Druggable
H692YSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
1.45
AM
0.821
pLDDT
88
Cat 3/4 · Druggable
H766DSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.29
AM
0.817
pLDDT
89
Cat 3/4 · Druggable
F883LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.21
AM
0.815
pLDDT
81
Cat 3/4 · Druggable
N682HSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.24
AM
0.815
pLDDT
86
Cat 3/4 · Druggable
C850GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.09
AM
0.814
pLDDT
74
Cat 3/4 · Druggable
E199GSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.18
AM
0.811
pLDDT
81
Cat 3/4 · Druggable
E830GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.70
AM
0.811
pLDDT
82
Cat 3/4 · Druggable
R708HSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.18
AM
0.808
pLDDT
93
Cat 3/4 · Druggable
K191NSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.23
AM
0.803
pLDDT
83
Cat 3/4 · Druggable
G780VSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.91
AM
0.800
pLDDT
88
Cat 3/4 · Druggable
F770CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.32
AM
0.798
pLDDT
84
Cat 3/4 · Druggable
V633LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.20
AM
0.791
pLDDT
81
Cat 3/4 · Druggable
G831SSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.38
AM
0.785
pLDDT
78
Cat 3/4 · Druggable
G98RSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.85
AM
0.776
pLDDT
84
Cat 3/4 · Druggable
I636TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.25
AM
0.775
pLDDT
84
Cat 3/4 · Druggable
N159SSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.53
AM
0.770
pLDDT
90
Cat 3/4 · Druggable
V709MSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.43
AM
0.759
pLDDT
93
Cat 3/4 · Druggable
P675LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.36
AM
0.755
pLDDT
81
Cat 3/4 · Druggable
T699ASource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.04
AM
0.750
pLDDT
89
Cat 3/4 · Druggable
T663KSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.01
AM
0.747
pLDDT
79
Cat 3/4 · Druggable
R832CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.25
AM
0.739
pLDDT
81
Cat 3/4 · Druggable
F882LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.02
AM
0.736
pLDDT
82
Cat 3/4 · Druggable
K634QSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.36
AM
0.730
pLDDT
83
Cat 3/4 · Druggable
V803MSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.36
AM
0.727
pLDDT
90
Cat 3/4 · Druggable
G670DSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.03
AM
0.726
pLDDT
85
Cat 3/4 · Druggable
M657ISource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.29
AM
0.725
pLDDT
52
Cat 3/4 · Druggable
T799PSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.44
AM
0.721
pLDDT
68
Cat 3/4 · Druggable
K811NSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.27
AM
0.715
pLDDT
86
Cat 3/4 · Druggable
E120KSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
0.53
AM
0.712
pLDDT
85
Cat 3/4 · Druggable
T686NSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.36
AM
0.709
pLDDT
90
Cat 3/4 · Druggable
D880HSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.03
AM
0.708
pLDDT
84
Cat 3/4 · Druggable
E231KSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.78
AM
0.703
pLDDT
76
Cat 3/4 · Druggable
Q668HSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.13
AM
0.701
pLDDT
87
Cat 3/4 · Druggable
R832GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.46
AM
0.691
pLDDT
81
Cat 3/4 · Druggable
H766YSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
1.10
AM
0.682
pLDDT
89
Cat 3/4 · Druggable
E809GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.19
AM
0.670
pLDDT
83
Cat 3/4 · Druggable
E694DSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.21
AM
0.668
pLDDT
86
Cat 3/4 · Druggable
M781ISource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.72
AM
0.660
pLDDT
84
Cat 3/4 · Druggable
R152SSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.51
AM
0.647
pLDDT
89
Cat 3/4 · Druggable
E173QSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.92
AM
0.643
pLDDT
87
Cat 3/4 · Druggable
M657TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.45
AM
0.629
pLDDT
52
Cat 3/4 · Druggable
T156MSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
0.25
AM
0.626
pLDDT
89
Cat 3/4 · Druggable
A134VSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.92
AM
0.622
pLDDT
91
Cat 3/4 · Druggable
E841QSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.64
AM
0.616
pLDDT
88
Cat 3/4 · Druggable
G820DSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.76
AM
0.616
pLDDT
83
Cat 3/4 · Druggable
R138GSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.06
AM
0.609
pLDDT
89
Cat 3/4 · Druggable
D866ESource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.49
AM
0.606
pLDDT
64
Cat 3/4 · Druggable
A677VSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.82
AM
0.600
pLDDT
81
Cat 3/4 · Druggable
D866YSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.16
AM
0.599
pLDDT
64
Cat 3/4 · Druggable
V659FSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.41
AM
0.598
pLDDT
62
Cat 3/4 · Druggable
S826GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.53
AM
0.597
pLDDT
89
Cat 3/4 · Druggable
E249KSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.64
AM
0.596
pLDDT
86
Cat 3/4 · Druggable
P260SSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.65
AM
0.590
pLDDT
59
Cat 3/4 · Druggable
S631CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.44
AM
0.588
pLDDT
69
Cat 3/4 · Druggable
M229TSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.11
AM
0.587
pLDDT
79
Cat 3/4 · Druggable
M731TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.43
AM
0.583
pLDDT
85
Cat 3/4 · Druggable
V207FSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.14
AM
0.572
pLDDT
62
Cat 3/4 · Druggable
K256NSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.30
AM
0.572
pLDDT
80
Cat 3/4 · Druggable
N721KSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.03
AM
0.569
pLDDT
83
Cat 3/4 · Druggable
P283LSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.08
AM
0.561
pLDDT
50
Cat 5 · IDR excl.
I304TSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.43
AM
0.557
pLDDT
65
Cat 4 · Stable fold
D866GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.30
AM
0.535
pLDDT
64
Cat 4 · Stable fold
I845FSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.87
AM
0.534
pLDDT
89
Cat 4 · Stable fold
R868CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.69
AM
0.526
pLDDT
68
Cat 4 · Stable fold
S888WSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.68
AM
0.516
pLDDT
80
Cat 4 · Stable fold
F649LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.27
AM
0.511
pLDDT
70
Cat 4 · Stable fold
G656SSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.06
AM
0.511
pLDDT
49
Cat 5 · IDR excl.
V142LSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.40
AM
0.510
pLDDT
92
Cat 4 · Stable fold
K811MSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.24
AM
0.508
pLDDT
86
Cat 4 · Stable fold
K762NSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.78
AM
0.493
pLDDT
82
Cat 4 · Stable fold
L609QSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.16
AM
0.489
pLDDT
70
Cat 4 · Stable fold
D305YSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
0.43
AM
0.489
pLDDT
67
Cat 4 · Stable fold
A677TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.70
AM
0.488
pLDDT
81
Cat 4 · Stable fold
K143ESource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.34
AM
0.488
pLDDT
93
Cat 4 · Stable fold
R676CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.38
AM
0.486
pLDDT
81
Cat 4 · Stable fold
K225ESource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.44
AM
0.483
pLDDT
72
Cat 4 · Stable fold
A844TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.91
AM
0.480
pLDDT
88
Cat 4 · Stable fold
M683VSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.25
AM
0.472
pLDDT
86
Cat 4 · Stable fold
E753KSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.04
AM
0.467
pLDDT
83
Cat 4 · Stable fold
P782SSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.39
AM
0.466
pLDDT
72
Cat 4 · Stable fold
H763QSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.66
AM
0.458
pLDDT
84
Cat 4 · Stable fold
K290TSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.15
AM
0.458
pLDDT
54
Cat 4 · Stable fold
S605NSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.07
AM
0.458
pLDDT
74
Cat 4 · Stable fold
T686ISource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.46
AM
0.456
pLDDT
90
Cat 4 · Stable fold
T799SSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.95
AM
0.455
pLDDT
68
Cat 4 · Stable fold
I712SSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.17
AM
0.454
pLDDT
90
Cat 4 · Stable fold
S715ISource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.25
AM
0.454
pLDDT
84
Cat 4 · Stable fold
A102VSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.92
AM
0.452
pLDDT
92
Cat 4 · Stable fold
S835GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.38
AM
0.450
pLDDT
84
Cat 4 · Stable fold
D713HSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.34
AM
0.445
pLDDT
85
Cat 4 · Stable fold
E140KSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.57
AM
0.444
pLDDT
91
Cat 4 · Stable fold
A102TSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.66
AM
0.436
pLDDT
92
Cat 4 · Stable fold
Y773CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.16
AM
0.434
pLDDT
90
Cat 4 · Stable fold
H294DSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
0.13
AM
0.432
pLDDT
62
Cat 4 · Stable fold
V779LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.60
AM
0.418
pLDDT
90
Cat 4 · Stable fold
P607ASource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.22
AM
0.418
pLDDT
66
Cat 4 · Stable fold
M722ISource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.22
AM
0.415
pLDDT
85
Cat 4 · Stable fold
P740HSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.35
AM
0.414
pLDDT
85
Cat 4 · Stable fold
A255TSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.91
AM
0.414
pLDDT
82
Cat 4 · Stable fold
A134TSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-1.73
AM
0.411
pLDDT
91
Cat 4 · Stable fold
D713GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.28
AM
0.410
pLDDT
85
Cat 4 · Stable fold
K758MSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.10
AM
0.407
pLDDT
83
Cat 4 · Stable fold
P279RSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
0.18
AM
0.406
pLDDT
50
Cat 4 · Stable fold
R676SSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.29
AM
0.403
pLDDT
81
Cat 4 · Stable fold
T30ISource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.56
AM
0.402
pLDDT
25
Cat 5 · IDR excl.
T710SSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.55
AM
0.401
pLDDT
91
Cat 4 · Stable fold
E655DSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.37
AM
0.401
pLDDT
50
Cat 4 · Stable fold
F618LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.27
AM
0.390
pLDDT
44
Cat 5 · IDR excl.
R756CSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.32
AM
0.385
pLDDT
83
Cat 4 · Stable fold
A255VSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
0.55
AM
0.384
pLDDT
82
Cat 4 · Stable fold
F725LSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.08
AM
0.379
pLDDT
83
Cat 4 · Stable fold
V258ASource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.45
AM
0.379
pLDDT
71
Cat 4 · Stable fold
P782TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.31
AM
0.378
pLDDT
72
Cat 4 · Stable fold
V219ASource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.42
AM
0.377
pLDDT
53
Cat 4 · Stable fold
M722TSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
0.54
AM
0.375
pLDDT
85
Cat 4 · Stable fold
A677GSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-1.20
AM
0.372
pLDDT
81
Cat 4 · Stable fold
K96TSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.36
AM
0.367
pLDDT
89
Cat 4 · Stable fold
I828MSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.86
AM
0.366
pLDDT
86
Cat 4 · Stable fold
S626FSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.66
AM
0.365
pLDDT
51
Cat 4 · Stable fold
R232CSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
0.33
AM
0.364
pLDDT
76
Cat 4 · Stable fold
R139CSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
0.27
AM
0.360
pLDDT
88
Cat 4 · Stable fold
V195MSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.22
AM
0.356
pLDDT
83
Cat 4 · Stable fold
M183VSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.70
AM
0.354
pLDDT
86
Cat 4 · Stable fold
R228CSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
0.27
AM
0.353
pLDDT
76
Cat 4 · Stable fold
A307VSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.81
AM
0.350
pLDDT
60
Cat 4 · Stable fold
T600ISource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.27
AM
0.347
pLDDT
69
Cat 4 · Stable fold
L286PSource card
N-terminal cytoplasmic (intrinsically disordered)
ΔΔG
-0.24
AM
0.344
pLDDT
56
Cat 4 · Stable fold
N849HSource card
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
ΔΔG
-0.46
AM
0.344
pLDDT
83
Cat 4 · Stable fold
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.339
ΔΔG
—
pLDDT
80
AlphaMissense: likely benign (0.34)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.337
ΔΔG
—
pLDDT
65
AlphaMissense: likely benign (0.34)
Transmembrane helix 6
AM
0.333
ΔΔG
—
pLDDT
70
AlphaMissense: likely benign (0.33)
Transmembrane helix 3
AM
0.333
ΔΔG
—
pLDDT
78
AlphaMissense: likely benign (0.33)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.333
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.33)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.331
ΔΔG
—
pLDDT
79
AlphaMissense: likely benign (0.33)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.330
ΔΔG
—
pLDDT
56
AlphaMissense: likely benign (0.33)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.329
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.33)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.325
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.33)
Transmembrane helix 8
AM
0.324
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.32)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.324
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.32)
Transmembrane helix 5
AM
0.323
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.32)
Transmembrane helix 9
AM
0.323
ΔΔG
—
pLDDT
77
AlphaMissense: likely benign (0.32)
Transmembrane helix 3
AM
0.323
ΔΔG
—
pLDDT
79
AlphaMissense: likely benign (0.32)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.321
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.32)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.318
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.32)
Transmembrane helix 4
AM
0.317
ΔΔG
—
pLDDT
93
AlphaMissense: likely benign (0.32)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.316
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.32)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.315
ΔΔG
—
pLDDT
31
AlphaMissense: likely benign (0.32)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.315
ΔΔG
—
pLDDT
73
AlphaMissense: likely benign (0.31)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.314
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.31)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.310
ΔΔG
—
pLDDT
61
AlphaMissense: likely benign (0.31)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.308
ΔΔG
—
pLDDT
67
AlphaMissense: likely benign (0.31)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.305
ΔΔG
—
pLDDT
93
AlphaMissense: likely benign (0.30)
Transmembrane helix 7
AM
0.305
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.30)
Transmembrane helix 9
AM
0.301
ΔΔG
—
pLDDT
70
AlphaMissense: likely benign (0.30)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.301
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.30)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.296
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.30)
Transmembrane helix 8
AM
0.294
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.29)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.294
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.29)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.291
ΔΔG
—
pLDDT
54
AlphaMissense: likely benign (0.29)
Transmembrane helix 5
AM
0.291
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.29)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.290
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.29)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.288
ΔΔG
—
pLDDT
27
AlphaMissense: likely benign (0.29)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.285
ΔΔG
—
pLDDT
52
AlphaMissense: likely benign (0.28)
Transmembrane helix 8
AM
0.285
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.28)
Transmembrane helix 5
AM
0.284
ΔΔG
—
pLDDT
78
AlphaMissense: likely benign (0.28)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.284
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.28)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.282
ΔΔG
—
pLDDT
60
AlphaMissense: likely benign (0.28)
Transmembrane helix 8
AM
0.280
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.28)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.280
ΔΔG
—
pLDDT
60
AlphaMissense: likely benign (0.28)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.279
ΔΔG
—
pLDDT
54
AlphaMissense: likely benign (0.28)
Transmembrane helix 1
AM
0.279
ΔΔG
—
pLDDT
76
AlphaMissense: likely benign (0.28)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.277
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.28)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.277
ΔΔG
—
pLDDT
72
AlphaMissense: likely benign (0.28)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.276
ΔΔG
—
pLDDT
77
AlphaMissense: likely benign (0.28)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.274
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.27)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.273
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.27)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.273
ΔΔG
—
pLDDT
62
AlphaMissense: likely benign (0.27)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.273
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.27)
Transmembrane helix 1
AM
0.272
ΔΔG
—
pLDDT
78
AlphaMissense: likely benign (0.27)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.269
ΔΔG
—
pLDDT
74
AlphaMissense: likely benign (0.27)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.269
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.27)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.269
ΔΔG
—
pLDDT
49
AlphaMissense: likely benign (0.27)
Transmembrane helix 6
AM
0.268
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.27)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.267
ΔΔG
—
pLDDT
43
AlphaMissense: likely benign (0.27)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.266
ΔΔG
—
pLDDT
73
AlphaMissense: likely benign (0.27)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.265
ΔΔG
—
pLDDT
73
AlphaMissense: likely benign (0.27)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.265
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.27)
Transmembrane helix 8
AM
0.265
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.26)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.262
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.26)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.259
ΔΔG
—
pLDDT
70
AlphaMissense: likely benign (0.26)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.259
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.26)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.258
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.26)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.257
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.26)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.257
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.26)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.255
ΔΔG
—
pLDDT
56
AlphaMissense: likely benign (0.26)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.254
ΔΔG
—
pLDDT
76
AlphaMissense: likely benign (0.25)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.254
ΔΔG
—
pLDDT
75
AlphaMissense: likely benign (0.25)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.253
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.25)
Transmembrane helix 1
AM
0.252
ΔΔG
—
pLDDT
61
AlphaMissense: likely benign (0.25)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.252
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.25)
Transmembrane helix 3
AM
0.251
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.25)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.250
ΔΔG
—
pLDDT
60
AlphaMissense: likely benign (0.25)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.249
ΔΔG
—
pLDDT
89
AlphaMissense: likely benign (0.25)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.249
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.25)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.247
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.25)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.247
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.25)
Transmembrane helix 2
AM
0.247
ΔΔG
—
pLDDT
92
AlphaMissense: likely benign (0.25)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.246
ΔΔG
—
pLDDT
50
AlphaMissense: likely benign (0.25)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.246
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.25)
Transmembrane helix 8
AM
0.245
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.24)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.244
ΔΔG
—
pLDDT
47
AlphaMissense: likely benign (0.24)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.243
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.24)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.241
ΔΔG
—
pLDDT
47
AlphaMissense: likely benign (0.24)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.240
ΔΔG
—
pLDDT
72
AlphaMissense: likely benign (0.24)
Transmembrane helix 4
AM
0.238
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.24)
Transmembrane helix 6
AM
0.238
ΔΔG
—
pLDDT
65
AlphaMissense: likely benign (0.24)
Transmembrane helix 8
AM
0.228
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.23)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.227
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.23)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.227
ΔΔG
—
pLDDT
52
AlphaMissense: likely benign (0.23)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.226
ΔΔG
—
pLDDT
56
AlphaMissense: likely benign (0.23)
Transmembrane helix 3
AM
0.226
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.23)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.225
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.23)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.224
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.22)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.224
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.22)
Transmembrane helix 5
AM
0.219
ΔΔG
—
pLDDT
75
AlphaMissense: likely benign (0.22)
Transmembrane helix 1
AM
0.215
ΔΔG
—
pLDDT
77
AlphaMissense: likely benign (0.22)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.215
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.22)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.214
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.21)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.213
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.21)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.213
ΔΔG
—
pLDDT
51
AlphaMissense: likely benign (0.21)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.212
ΔΔG
—
pLDDT
47
AlphaMissense: likely benign (0.21)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.212
ΔΔG
—
pLDDT
62
AlphaMissense: likely benign (0.21)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.210
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.21)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.210
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.21)
Transmembrane helix 7
AM
0.209
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.21)
Transmembrane helix 9
AM
0.209
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.21)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.208
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.21)
Transmembrane helix 8
AM
0.207
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.21)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.205
ΔΔG
—
pLDDT
54
AlphaMissense: likely benign (0.21)
Transmembrane helix 3
AM
0.203
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.20)
Transmembrane helix 1
AM
0.203
ΔΔG
—
pLDDT
57
AlphaMissense: likely benign (0.20)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.202
ΔΔG
—
pLDDT
78
AlphaMissense: likely benign (0.20)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.202
ΔΔG
—
pLDDT
42
AlphaMissense: likely benign (0.20)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.202
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.20)
Transmembrane helix 1
AM
0.201
ΔΔG
—
pLDDT
76
AlphaMissense: likely benign (0.20)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.200
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.20)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.197
ΔΔG
—
pLDDT
58
AlphaMissense: likely benign (0.20)
Transmembrane helix 4
AM
0.197
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.20)
Transmembrane helix 6
AM
0.197
ΔΔG
—
pLDDT
67
AlphaMissense: likely benign (0.20)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.196
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.20)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.195
ΔΔG
—
pLDDT
64
AlphaMissense: likely benign (0.19)
Cytoplasmic loop 5 / pre-lumenal
AM
0.195
ΔΔG
—
pLDDT
75
AlphaMissense: likely benign (0.19)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.194
ΔΔG
—
pLDDT
25
AlphaMissense: likely benign (0.19)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.193
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.19)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.192
ΔΔG
—
pLDDT
91
AlphaMissense: likely benign (0.19)
Transmembrane helix 1
AM
0.192
ΔΔG
—
pLDDT
76
AlphaMissense: likely benign (0.19)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.191
ΔΔG
—
pLDDT
53
AlphaMissense: likely benign (0.19)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.188
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.19)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.188
ΔΔG
—
pLDDT
61
AlphaMissense: likely benign (0.19)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.185
ΔΔG
—
pLDDT
67
AlphaMissense: likely benign (0.19)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.185
ΔΔG
—
pLDDT
69
AlphaMissense: likely benign (0.19)
Transmembrane helix 6
AM
0.185
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.18)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.184
ΔΔG
—
pLDDT
94
AlphaMissense: likely benign (0.18)
Cytoplasmic loop 5 / pre-lumenal
AM
0.184
ΔΔG
—
pLDDT
65
AlphaMissense: likely benign (0.18)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.183
ΔΔG
—
pLDDT
59
AlphaMissense: likely benign (0.18)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.182
ΔΔG
—
pLDDT
62
AlphaMissense: likely benign (0.18)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.182
ΔΔG
—
pLDDT
60
AlphaMissense: likely benign (0.18)
Transmembrane helix 3
AM
0.181
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.18)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.180
ΔΔG
—
pLDDT
52
AlphaMissense: likely benign (0.18)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.180
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.18)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.179
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.18)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.179
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.18)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.179
ΔΔG
—
pLDDT
78
AlphaMissense: likely benign (0.18)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.179
ΔΔG
—
pLDDT
27
AlphaMissense: likely benign (0.18)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.178
ΔΔG
—
pLDDT
61
AlphaMissense: likely benign (0.18)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.178
ΔΔG
—
pLDDT
89
AlphaMissense: likely benign (0.18)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.178
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.18)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.177
ΔΔG
—
pLDDT
28
AlphaMissense: likely benign (0.18)
Transmembrane helix 7
AM
0.176
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.18)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.175
ΔΔG
—
pLDDT
55
AlphaMissense: likely benign (0.18)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.175
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.18)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.175
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.17)
Transmembrane helix 4
AM
0.175
ΔΔG
—
pLDDT
91
AlphaMissense: likely benign (0.17)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.174
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.17)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.173
ΔΔG
—
pLDDT
47
AlphaMissense: likely benign (0.17)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.173
ΔΔG
—
pLDDT
76
AlphaMissense: likely benign (0.17)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.173
ΔΔG
—
pLDDT
49
AlphaMissense: likely benign (0.17)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.172
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.17)
Transmembrane helix 6
AM
0.170
ΔΔG
—
pLDDT
77
AlphaMissense: likely benign (0.17)
Transmembrane helix 6
AM
0.170
ΔΔG
—
pLDDT
63
AlphaMissense: likely benign (0.17)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.170
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.17)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.169
ΔΔG
—
pLDDT
51
AlphaMissense: likely benign (0.17)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.169
ΔΔG
—
pLDDT
92
AlphaMissense: likely benign (0.17)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.168
ΔΔG
—
pLDDT
47
AlphaMissense: likely benign (0.17)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.168
ΔΔG
—
pLDDT
74
AlphaMissense: likely benign (0.17)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.165
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.16)
Transmembrane helix 8
AM
0.164
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.16)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.164
ΔΔG
—
pLDDT
55
AlphaMissense: likely benign (0.16)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.164
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.16)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.163
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.16)
Transmembrane helix 9
AM
0.159
ΔΔG
—
pLDDT
70
AlphaMissense: likely benign (0.16)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.159
ΔΔG
—
pLDDT
74
AlphaMissense: likely benign (0.16)
Transmembrane helix 7
AM
0.155
ΔΔG
—
pLDDT
79
AlphaMissense: likely benign (0.16)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.154
ΔΔG
—
pLDDT
93
AlphaMissense: likely benign (0.15)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.152
ΔΔG
—
pLDDT
91
AlphaMissense: likely benign (0.15)
Transmembrane helix 7
AM
0.152
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.15)
Transmembrane helix 4
AM
0.152
ΔΔG
—
pLDDT
91
AlphaMissense: likely benign (0.15)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.151
ΔΔG
—
pLDDT
61
AlphaMissense: likely benign (0.15)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.151
ΔΔG
—
pLDDT
92
AlphaMissense: likely benign (0.15)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.151
ΔΔG
—
pLDDT
64
AlphaMissense: likely benign (0.15)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.151
ΔΔG
—
pLDDT
77
AlphaMissense: likely benign (0.15)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.151
ΔΔG
—
pLDDT
54
AlphaMissense: likely benign (0.15)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.150
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.15)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.150
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.15)
Transmembrane helix 5
AM
0.148
ΔΔG
—
pLDDT
72
AlphaMissense: likely benign (0.15)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.147
ΔΔG
—
pLDDT
47
AlphaMissense: likely benign (0.15)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.146
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.15)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.146
ΔΔG
—
pLDDT
59
AlphaMissense: likely benign (0.15)
Transmembrane helix 1
AM
0.146
ΔΔG
—
pLDDT
75
AlphaMissense: likely benign (0.15)
Transmembrane helix 8
AM
0.145
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.15)
Transmembrane helix 2
AM
0.144
ΔΔG
—
pLDDT
91
AlphaMissense: likely benign (0.14)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.144
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.14)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.144
ΔΔG
—
pLDDT
49
AlphaMissense: likely benign (0.14)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.143
ΔΔG
—
pLDDT
45
AlphaMissense: likely benign (0.14)
Transmembrane helix 7
AM
0.142
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.14)
Transmembrane helix 6
AM
0.142
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.14)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.142
ΔΔG
—
pLDDT
47
AlphaMissense: likely benign (0.14)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.141
ΔΔG
—
pLDDT
54
AlphaMissense: likely benign (0.14)
Transmembrane helix 2
AM
0.141
ΔΔG
—
pLDDT
89
AlphaMissense: likely benign (0.14)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.141
ΔΔG
—
pLDDT
31
AlphaMissense: likely benign (0.14)
Transmembrane helix 2
AM
0.140
ΔΔG
—
pLDDT
73
AlphaMissense: likely benign (0.14)
Transmembrane helix 8
AM
0.140
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.14)
Transmembrane helix 6
AM
0.139
ΔΔG
—
pLDDT
67
AlphaMissense: likely benign (0.14)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.138
ΔΔG
—
pLDDT
46
AlphaMissense: likely benign (0.14)
Transmembrane helix 9
AM
0.138
ΔΔG
—
pLDDT
70
AlphaMissense: likely benign (0.14)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.137
ΔΔG
—
pLDDT
38
AlphaMissense: likely benign (0.14)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.137
ΔΔG
—
pLDDT
92
AlphaMissense: likely benign (0.14)
Transmembrane helix 6
AM
0.137
ΔΔG
—
pLDDT
71
AlphaMissense: likely benign (0.14)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.136
ΔΔG
—
pLDDT
65
AlphaMissense: likely benign (0.14)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.136
ΔΔG
—
pLDDT
27
AlphaMissense: likely benign (0.14)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.135
ΔΔG
—
pLDDT
46
AlphaMissense: likely benign (0.14)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.135
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.13)
Transmembrane helix 7
AM
0.134
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.13)
Transmembrane helix 1
AM
0.134
ΔΔG
—
pLDDT
62
AlphaMissense: likely benign (0.13)
Transmembrane helix 7
AM
0.134
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.13)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.132
ΔΔG
—
pLDDT
58
AlphaMissense: likely benign (0.13)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.132
ΔΔG
—
pLDDT
89
AlphaMissense: likely benign (0.13)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.132
ΔΔG
—
pLDDT
79
AlphaMissense: likely benign (0.13)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.131
ΔΔG
—
pLDDT
65
AlphaMissense: likely benign (0.13)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.131
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.13)
Transmembrane helix 3
AM
0.131
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.13)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.130
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.13)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.130
ΔΔG
—
pLDDT
33
AlphaMissense: likely benign (0.13)
Cytoplasmic loop 5 / pre-lumenal
AM
0.130
ΔΔG
—
pLDDT
65
AlphaMissense: likely benign (0.13)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.129
ΔΔG
—
pLDDT
64
AlphaMissense: likely benign (0.13)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.129
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.13)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.129
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.13)
Transmembrane helix 7
AM
0.129
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.13)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.128
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.13)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.127
ΔΔG
—
pLDDT
46
AlphaMissense: likely benign (0.13)
Transmembrane helix 8
AM
0.126
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.13)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.126
ΔΔG
—
pLDDT
60
AlphaMissense: likely benign (0.13)
Cytoplasmic loop 5 / pre-lumenal
AM
0.125
ΔΔG
—
pLDDT
62
AlphaMissense: likely benign (0.13)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.125
ΔΔG
—
pLDDT
78
AlphaMissense: likely benign (0.13)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.125
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.12)
Transmembrane helix 7
AM
0.122
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.12)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.121
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.12)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.121
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.12)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.120
ΔΔG
—
pLDDT
66
AlphaMissense: likely benign (0.12)
Transmembrane helix 9
AM
0.120
ΔΔG
—
pLDDT
77
AlphaMissense: likely benign (0.12)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.120
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.12)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.119
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.12)
Transmembrane helix 9
AM
0.118
ΔΔG
—
pLDDT
70
AlphaMissense: likely benign (0.12)
Transmembrane helix 4
AM
0.118
ΔΔG
—
pLDDT
93
AlphaMissense: likely benign (0.12)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.117
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.12)
Transmembrane helix 5
AM
0.117
ΔΔG
—
pLDDT
89
AlphaMissense: likely benign (0.12)
Transmembrane helix 9
AM
0.117
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.12)
Cytoplasmic loop 5 / pre-lumenal
AM
0.116
ΔΔG
—
pLDDT
66
AlphaMissense: likely benign (0.12)
Transmembrane helix 6
AM
0.116
ΔΔG
—
pLDDT
78
AlphaMissense: likely benign (0.12)
Transmembrane helix 3
AM
0.116
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.12)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.116
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.12)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.115
ΔΔG
—
pLDDT
30
AlphaMissense: likely benign (0.12)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.115
ΔΔG
—
pLDDT
30
AlphaMissense: likely benign (0.12)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.115
ΔΔG
—
pLDDT
62
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.113
ΔΔG
—
pLDDT
54
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.113
ΔΔG
—
pLDDT
31
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.113
ΔΔG
—
pLDDT
31
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.112
ΔΔG
—
pLDDT
67
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.112
ΔΔG
—
pLDDT
61
AlphaMissense: likely benign (0.11)
Transmembrane helix 8
AM
0.112
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.112
ΔΔG
—
pLDDT
80
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.111
ΔΔG
—
pLDDT
66
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.111
ΔΔG
—
pLDDT
48
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.111
ΔΔG
—
pLDDT
63
AlphaMissense: likely benign (0.11)
Transmembrane helix 9
AM
0.111
ΔΔG
—
pLDDT
77
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.109
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.11)
Transmembrane helix 5
AM
0.109
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.109
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.109
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.11)
Transmembrane helix 3
AM
0.109
ΔΔG
—
pLDDT
80
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.108
ΔΔG
—
pLDDT
28
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.108
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.108
ΔΔG
—
pLDDT
79
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.108
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.107
ΔΔG
—
pLDDT
53
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.107
ΔΔG
—
pLDDT
79
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.107
ΔΔG
—
pLDDT
61
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.106
ΔΔG
—
pLDDT
28
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.106
ΔΔG
—
pLDDT
76
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.106
ΔΔG
—
pLDDT
27
AlphaMissense: likely benign (0.11)
G78REditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
-0.48
AM
0.106
pLDDT
26
Cat 5 · IDR excl.
Transmembrane helix 8
AM
0.106
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.106
ΔΔG
—
pLDDT
58
AlphaMissense: likely benign (0.11)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.106
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.11)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.104
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.104
ΔΔG
—
pLDDT
28
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.103
ΔΔG
—
pLDDT
65
AlphaMissense: likely benign (0.10)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.103
ΔΔG
—
pLDDT
45
AlphaMissense: likely benign (0.10)
Transmembrane helix 4
AM
0.102
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.102
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.102
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.10)
Transmembrane helix 9
AM
0.102
ΔΔG
—
pLDDT
79
AlphaMissense: likely benign (0.10)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.102
ΔΔG
—
pLDDT
63
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.101
ΔΔG
—
pLDDT
25
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.101
ΔΔG
—
pLDDT
31
AlphaMissense: likely benign (0.10)
Transmembrane helix 1
AM
0.101
ΔΔG
—
pLDDT
76
AlphaMissense: likely benign (0.10)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.100
ΔΔG
—
pLDDT
78
AlphaMissense: likely benign (0.10)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.100
ΔΔG
—
pLDDT
59
AlphaMissense: likely benign (0.10)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.100
ΔΔG
—
pLDDT
73
AlphaMissense: likely benign (0.10)
A31GEditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
-0.35
AM
0.100
pLDDT
28
Cat 5 · IDR excl.
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.100
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.100
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.10)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.100
ΔΔG
—
pLDDT
62
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.098
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.10)
Transmembrane helix 5
AM
0.098
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.10)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.098
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.097
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.10)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.097
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.10)
Transmembrane helix 5
AM
0.097
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.096
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.096
ΔΔG
—
pLDDT
29
AlphaMissense: likely benign (0.10)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.096
ΔΔG
—
pLDDT
59
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.096
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.10)
Transmembrane helix 1
AM
0.096
ΔΔG
—
pLDDT
58
AlphaMissense: likely benign (0.10)
Transmembrane helix 7
AM
0.096
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.10)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.096
ΔΔG
—
pLDDT
78
AlphaMissense: likely benign (0.10)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.095
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.10)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.095
ΔΔG
—
pLDDT
45
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.095
ΔΔG
—
pLDDT
33
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.095
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.09)
Transmembrane helix 9
AM
0.094
ΔΔG
—
pLDDT
66
AlphaMissense: likely benign (0.09)
Transmembrane helix 9
AM
0.094
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.094
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.094
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.093
ΔΔG
—
pLDDT
27
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.093
ΔΔG
—
pLDDT
93
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.093
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.09)
Transmembrane helix 6
AM
0.093
ΔΔG
—
pLDDT
70
AlphaMissense: likely benign (0.09)
Transmembrane helix 6
AM
0.092
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.09)
Transmembrane helix 9
AM
0.092
ΔΔG
—
pLDDT
66
AlphaMissense: likely benign (0.09)
Transmembrane helix 6
AM
0.092
ΔΔG
—
pLDDT
78
AlphaMissense: likely benign (0.09)
Transmembrane helix 8
AM
0.092
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.092
ΔΔG
—
pLDDT
31
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.091
ΔΔG
—
pLDDT
73
AlphaMissense: likely benign (0.09)
Transmembrane helix 8
AM
0.091
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.091
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.091
ΔΔG
—
pLDDT
31
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.091
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.090
ΔΔG
—
pLDDT
79
AlphaMissense: likely benign (0.09)
Transmembrane helix 8
AM
0.090
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.090
ΔΔG
—
pLDDT
70
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.089
ΔΔG
—
pLDDT
52
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.089
ΔΔG
—
pLDDT
31
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.088
ΔΔG
—
pLDDT
66
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.088
ΔΔG
—
pLDDT
29
AlphaMissense: likely benign (0.09)
Transmembrane helix 5
AM
0.088
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.088
ΔΔG
—
pLDDT
58
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.088
ΔΔG
—
pLDDT
29
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.088
ΔΔG
—
pLDDT
65
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.088
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.087
ΔΔG
—
pLDDT
39
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.087
ΔΔG
—
pLDDT
48
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.087
ΔΔG
—
pLDDT
45
AlphaMissense: likely benign (0.09)
A58VEditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
-0.68
AM
0.087
pLDDT
26
Cat 5 · IDR excl.
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.087
ΔΔG
—
pLDDT
62
AlphaMissense: likely benign (0.09)
Transmembrane helix 9
AM
0.087
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.086
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.086
ΔΔG
—
pLDDT
28
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.086
ΔΔG
—
pLDDT
60
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.086
ΔΔG
—
pLDDT
25
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.086
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.086
ΔΔG
—
pLDDT
43
AlphaMissense: likely benign (0.09)
Cytoplasmic loop 5 / pre-lumenal
AM
0.086
ΔΔG
—
pLDDT
66
AlphaMissense: likely benign (0.09)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.085
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.09)
Transmembrane helix 5
AM
0.085
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.09)
Transmembrane helix 5
AM
0.085
ΔΔG
—
pLDDT
94
AlphaMissense: likely benign (0.09)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.085
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.084
ΔΔG
—
pLDDT
45
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.084
ΔΔG
—
pLDDT
43
AlphaMissense: likely benign (0.08)
Transmembrane helix 2
AM
0.084
ΔΔG
—
pLDDT
89
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.084
ΔΔG
—
pLDDT
59
AlphaMissense: likely benign (0.08)
Cytoplasmic loop 5 / pre-lumenal
AM
0.084
ΔΔG
—
pLDDT
66
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.084
ΔΔG
—
pLDDT
77
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.084
ΔΔG
—
pLDDT
78
AlphaMissense: likely benign (0.08)
G76VEditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
-1.11
AM
0.084
pLDDT
26
Cat 5 · IDR excl.
Transmembrane helix 9
AM
0.084
ΔΔG
—
pLDDT
73
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.083
ΔΔG
—
pLDDT
31
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.083
ΔΔG
—
pLDDT
29
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.083
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.083
ΔΔG
—
pLDDT
89
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.083
ΔΔG
—
pLDDT
71
AlphaMissense: likely benign (0.08)
Transmembrane helix 5
AM
0.082
ΔΔG
—
pLDDT
90
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.082
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.082
ΔΔG
—
pLDDT
35
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.082
ΔΔG
—
pLDDT
80
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.082
ΔΔG
—
pLDDT
70
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.082
ΔΔG
—
pLDDT
65
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.082
ΔΔG
—
pLDDT
33
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.082
ΔΔG
—
pLDDT
28
AlphaMissense: likely benign (0.08)
A57SEditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
0.10
AM
0.081
pLDDT
27
Cat 5 · IDR excl.
N-terminal cytoplasmic (intrinsically disordered)
AM
0.081
ΔΔG
—
pLDDT
28
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.081
ΔΔG
—
pLDDT
45
AlphaMissense: likely benign (0.08)
Transmembrane helix 9
AM
0.081
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.081
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.081
ΔΔG
—
pLDDT
47
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.080
ΔΔG
—
pLDDT
67
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.080
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.080
ΔΔG
—
pLDDT
49
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.079
ΔΔG
—
pLDDT
47
AlphaMissense: likely benign (0.08)
Transmembrane helix 6
AM
0.079
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.079
ΔΔG
—
pLDDT
29
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.079
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.079
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.078
ΔΔG
—
pLDDT
33
AlphaMissense: likely benign (0.08)
Transmembrane helix 6
AM
0.078
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.078
ΔΔG
—
pLDDT
92
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.078
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.078
ΔΔG
—
pLDDT
92
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.077
ΔΔG
—
pLDDT
34
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.077
ΔΔG
—
pLDDT
25
AlphaMissense: likely benign (0.08)
A43VEditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
-1.11
AM
0.077
pLDDT
28
Cat 5 · IDR excl.
N-terminal cytoplasmic (intrinsically disordered)
AM
0.077
ΔΔG
—
pLDDT
49
AlphaMissense: likely benign (0.08)
A58TEditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
0.05
AM
0.077
pLDDT
26
Cat 5 · IDR excl.
N-terminal cytoplasmic (intrinsically disordered)
AM
0.077
ΔΔG
—
pLDDT
38
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.076
ΔΔG
—
pLDDT
67
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.076
ΔΔG
—
pLDDT
52
AlphaMissense: likely benign (0.08)
Transmembrane helix 9
AM
0.075
ΔΔG
—
pLDDT
79
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.075
ΔΔG
—
pLDDT
28
AlphaMissense: likely benign (0.08)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.075
ΔΔG
—
pLDDT
73
AlphaMissense: likely benign (0.08)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.075
ΔΔG
—
pLDDT
84
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.075
ΔΔG
—
pLDDT
52
AlphaMissense: likely benign (0.07)
Transmembrane helix 5
AM
0.075
ΔΔG
—
pLDDT
72
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.075
ΔΔG
—
pLDDT
28
AlphaMissense: likely benign (0.07)
Transmembrane helix 9
AM
0.074
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.074
ΔΔG
—
pLDDT
28
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.074
ΔΔG
—
pLDDT
49
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.074
ΔΔG
—
pLDDT
35
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.073
ΔΔG
—
pLDDT
33
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.073
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.073
ΔΔG
—
pLDDT
83
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.073
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.07)
Transmembrane helix 6
AM
0.072
ΔΔG
—
pLDDT
68
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.072
ΔΔG
—
pLDDT
75
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.072
ΔΔG
—
pLDDT
33
AlphaMissense: likely benign (0.07)
Transmembrane helix 9
AM
0.072
ΔΔG
—
pLDDT
79
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.072
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.072
ΔΔG
—
pLDDT
47
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.072
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.07)
Transmembrane helix 7
AM
0.072
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.072
ΔΔG
—
pLDDT
44
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.072
ΔΔG
—
pLDDT
40
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.071
ΔΔG
—
pLDDT
64
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.071
ΔΔG
—
pLDDT
34
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.071
ΔΔG
—
pLDDT
82
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.071
ΔΔG
—
pLDDT
61
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.071
ΔΔG
—
pLDDT
34
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.071
ΔΔG
—
pLDDT
31
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.070
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.070
ΔΔG
—
pLDDT
48
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.070
ΔΔG
—
pLDDT
81
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.070
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.07)
Transmembrane helix 7
AM
0.070
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.069
ΔΔG
—
pLDDT
77
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.069
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.07)
R42QEditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
-0.05
AM
0.069
pLDDT
29
Cat 5 · IDR excl.
Cytoplasmic loop 5 / pre-lumenal
AM
0.069
ΔΔG
—
pLDDT
69
AlphaMissense: likely benign (0.07)
P52TEditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
-0.24
AM
0.068
pLDDT
44
Cat 5 · IDR excl.
A57TEditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
0.07
AM
0.068
pLDDT
27
Cat 5 · IDR excl.
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.068
ΔΔG
—
pLDDT
69
AlphaMissense: likely benign (0.07)
Transmembrane helix 7
AM
0.068
ΔΔG
—
pLDDT
80
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.067
ΔΔG
—
pLDDT
54
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.067
ΔΔG
—
pLDDT
67
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.067
ΔΔG
—
pLDDT
27
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.066
ΔΔG
—
pLDDT
27
AlphaMissense: likely benign (0.07)
Transmembrane helix 2
AM
0.066
ΔΔG
—
pLDDT
91
AlphaMissense: likely benign (0.07)
P19LEditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
-0.30
AM
0.066
pLDDT
34
Cat 5 · IDR excl.
N-terminal cytoplasmic (intrinsically disordered)
AM
0.066
ΔΔG
—
pLDDT
27
AlphaMissense: likely benign (0.07)
Transmembrane helix 2
AM
0.066
ΔΔG
—
pLDDT
91
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.066
ΔΔG
—
pLDDT
48
AlphaMissense: likely benign (0.07)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.066
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.07)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.065
ΔΔG
—
pLDDT
42
AlphaMissense: likely benign (0.06)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.065
ΔΔG
—
pLDDT
33
AlphaMissense: likely benign (0.06)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.064
ΔΔG
—
pLDDT
29
AlphaMissense: likely benign (0.06)
P10SEditorial
N-terminal intrinsically disordered region (1-86)
ΔΔG
-0.23
AM
0.064
pLDDT
35
Cat 5 · IDR excl.
Transmembrane helix 6
AM
0.064
ΔΔG
—
pLDDT
61
AlphaMissense: likely benign (0.06)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.063
ΔΔG
—
pLDDT
40
AlphaMissense: likely benign (0.06)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.063
ΔΔG
—
pLDDT
87
AlphaMissense: likely benign (0.06)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.062
ΔΔG
—
pLDDT
30
AlphaMissense: likely benign (0.06)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.062
ΔΔG
—
pLDDT
77
AlphaMissense: likely benign (0.06)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.062
ΔΔG
—
pLDDT
86
AlphaMissense: likely benign (0.06)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.061
ΔΔG
—
pLDDT
38
AlphaMissense: likely benign (0.06)
Transmembrane helix 6
AM
0.060
ΔΔG
—
pLDDT
72
AlphaMissense: likely benign (0.06)
Transmembrane helix 4
AM
0.058
ΔΔG
—
pLDDT
85
AlphaMissense: likely benign (0.06)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.058
ΔΔG
—
pLDDT
89
AlphaMissense: likely benign (0.06)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.058
ΔΔG
—
pLDDT
29
AlphaMissense: likely benign (0.06)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.057
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.06)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.056
ΔΔG
—
pLDDT
88
AlphaMissense: likely benign (0.06)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.054
ΔΔG
—
pLDDT
44
AlphaMissense: likely benign (0.05)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.054
ΔΔG
—
pLDDT
74
AlphaMissense: likely benign (0.05)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.053
ΔΔG
—
pLDDT
26
AlphaMissense: likely benign (0.05)
N-terminal cytoplasmic (intrinsically disordered)
AM
0.051
ΔΔG
—
pLDDT
31
AlphaMissense: likely benign (0.05)
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
AM
0.044
ΔΔG
—
pLDDT
74
AlphaMissense: likely benign (0.04)
C647TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
647
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
CNV_VCV000057239Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-16.1
CNV_VCV000057874Copy-number
Chromosome 4p16.3-15.33
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.33
CNV_VCV000057901Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000057902Copy-number
Chromosome 4p16.3-15.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.1
CNV_VCV000057936Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000057937Copy-number
Chromosome 4p16.3-15.32
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.32
CNV_VCV000057938Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000058011Copy-number
Chromosome 4p16.3-15.1
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-15.1
CNV_VCV000058013Copy-number
Chromosome 4p16.3-15.2
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-15.2
CNV_VCV000058015Copy-number
Chromosome 4p16.3-14
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-14
CNV_VCV000144195Copy-number
Chromosome 4p16.3-14
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-14
CNV_VCV000146010Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000146023Copy-number
Chromosome 4p16.3-15.32
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-15.32
CNV_VCV000146113Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000146219Copy-number
Chromosome 4p16.3-15.32
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.32
CNV_VCV000146353Copy-number
Chromosome 4p16.3-15.32
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.32
CNV_VCV000146368Copy-number
Chromosome 4p16.2-16.1
Schema
CNV-loss
Position
0
ClinVar
Uncertain significance
CNV-loss — Copy-number deletion — 4p16.2-16.1
CNV_VCV000146749Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000147922Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000147969Copy-number
Chromosome 4p16.3-15.31
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-15.31
CNV_VCV000148186Copy-number
Chromosome 4p16.3-12
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-12
CNV_VCV000149142Copy-number
Chromosome 4p16.3-15.33
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.33
CNV_VCV000149173Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000149255Copy-number
Chromosome 4p16.3-15.31
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-15.31
CNV_VCV000150692Copy-number
Chromosome 4p16.2-16.1
Schema
CNV-loss
Position
0
ClinVar
Uncertain significance
CNV-loss — Copy-number deletion — 4p16.2-16.1
CNV_VCV000150735Copy-number
Chromosome 4p16.3-15.32
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.32
CNV_VCV000153003Copy-number
Chromosome 4p16.3-15.32
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.32
CNV_VCV000154884Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000155310Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000155619Copy-number
Chromosome 4p16.3-15.33
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.33
CNV_VCV000155646Copy-number
Chromosome 4p16.3-15.31
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.31
CNV_VCV000219020Copy-number
Chromosome 4p16.3-15.31
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.31
CNV_VCV000252966Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000253431Copy-number
Chromosome 4p16.3-15.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.1
CNV_VCV000253503Copy-number
Chromosome 4p16.3-11
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-11
CNV_VCV000253574Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000253666Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-16.1
CNV_VCV000394281Copy-number
Chromosome 4p16.3-15.32
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.32
CNV_VCV000394609Copy-number
Chromosome 4p16.3-q35.2
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-q35.2
CNV_VCV000441727Copy-number
Chromosome 4p16.3-q35.2
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-q35.2
CNV_VCV000441728Copy-number
Chromosome 4p16.3-q35.2
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-q35.2
CNV_VCV000441812Copy-number
Chromosome 4p16.3-q13.1
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-q13.1
CNV_VCV000442268Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000442536Copy-number
Chromosome 4p16.3-15.33
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.33
CNV_VCV000443045Copy-number
Chromosome 4p16.3-15.32
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.32
CNV_VCV000443978Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-gain
Position
0
ClinVar
LP
CNV-gain — Copy-number duplication — 4p16.3-16.1
CNV_VCV000562874Copy-number
Chromosome 4p16.3-11
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-11
CNV_VCV000562884Copy-number
Chromosome 4p16.3-15.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.1
CNV_VCV000625664Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000685188Copy-number
Chromosome 4p16.3-15.33
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.33
CNV_VCV000687051Copy-number
Chromosome 4p16.2-16.1
Schema
CNV-loss
Position
0
ClinVar
Uncertain significance
CNV-loss — Copy-number deletion — 4p16.2-16.1
CNV_VCV000814520Copy-number
Chromosome 4p16.3-15.2
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-15.2
CNV_VCV000814521Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000814522Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000814523Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000814524Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000814529Copy-number
Chromosome 4p16.2-15.32
Schema
CNV-loss
Position
0
ClinVar
LP
CNV-loss — Copy-number deletion — 4p16.2-15.32
CNV_VCV000816497Copy-number
Chromosome 4p16.3-15.2
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.2
CNV_VCV000929396Copy-number
Chromosome 4p16.3-11
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-11
CNV_VCV000977788Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
LP
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV000979453Copy-number
Chromosome 4p16.2-16.1
Schema
CNV-loss
Position
0
ClinVar
Uncertain significance
CNV-loss — Copy-number deletion — 4p16.2-16.1
CNV_VCV001180545Copy-number
Chromosome 4p16.3-15.31
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.31
CNV_VCV001180546Copy-number
Chromosome 4p16.3-15.1
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-15.1
CNV_VCV001340960Copy-number
Chromosome 4p16.2-16.1
Schema
CNV-loss
Position
0
ClinVar
Uncertain significance
CNV-loss — Copy-number deletion — 4p16.2-16.1
CNV_VCV001341071Copy-number
Chromosome 4p16.3-15.31
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.31
CNV_VCV001704651Copy-number
Chromosome 4p16.3-12
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-12
CNV_VCV001707444Copy-number
Chromosome 4p16.3-15.31
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.31
CNV_VCV001711164Copy-number
Chromosome 4p16.3-11
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-11
CNV_VCV001808552Copy-number
Chromosome 4p16.3-15.33
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.33
CNV_VCV001808621Copy-number
Chromosome 4p16.3-15.33
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.33
CNV_VCV002574695Copy-number
Chromosome 4p16.3-15.1
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-15.1
CNV_VCV002579172Copy-number
Chromosome 4p16.3-11
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-11
CNV_VCV002579173Copy-number
Chromosome 4p16.3-13
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-13
CNV_VCV002579174Copy-number
Chromosome 4p16.3-q12
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-q12
CNV_VCV002583026Copy-number
Chromosome 4p16.3-15.32
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.32
CNV_VCV002685952Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-16.1
CNV_VCV003024630Copy-number
Chromosome 4p16.3-15.33
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.33
CNV_VCV003062750Copy-number
Chromosome 4p16.3-11
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-11
CNV_VCV003062759Copy-number
Chromosome 4p16.3-15.31
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.31
CNV_VCV003062771Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV003062781Copy-number
Chromosome 4p16.3-15.33
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.33
CNV_VCV003062783Copy-number
Chromosome 4p16.3-15.31
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.31
CNV_VCV003391844Copy-number
Chromosome 4p16.3-15.32
Schema
CNV-gain
Position
0
ClinVar
Path
CNV-gain — Copy-number duplication — 4p16.3-15.32
CNV_VCV004075992Copy-number
Chromosome 4p16.3-15.33
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.33
CNV_VCV004682604Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-gain
Position
0
ClinVar
LP
CNV-gain — Copy-number duplication — 4p16.3-16.1
CNV_VCV004682605Copy-number
Chromosome 4p16.3-15.2
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.2
CNV_VCV004682606Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
CNV_VCV004796095Copy-number
Chromosome 4p16.1
Schema
CNV-gain
Position
0
ClinVar
Uncertain significance
CNV-gain — Copy-number duplication — 4p16.1
CNV_VCV004796162Copy-number
Chromosome 4p16.3-15.33
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.33
CNV_VCV004851030Copy-number
Chromosome 4p16.3-15.31
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-15.31
CNV_VCV004851207Copy-number
Chromosome 4p16.3-16.1
Schema
CNV-loss
Position
0
ClinVar
Path
CNV-loss — Copy-number deletion — 4p16.3-16.1
E120TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
120
ClinVar
LP
N1 — NMD-targeted — null allele
E173TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
173
ClinVar
LP
N1 — NMD-targeted — null allele
E273TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
273
ClinVar
Path
N1 — NMD-targeted — null allele
E39TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
39
ClinVar
LP
N1 — NMD-targeted — null allele
E752TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N4
Position
752
ClinVar
P/LP
N4 — NMD-escape, minor truncation — highest druggability
E90TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
90
ClinVar
Path
N1 — NMD-targeted — null allele
K253TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
253
ClinVar
Path
N1 — NMD-targeted — null allele
K762TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N4
Position
762
ClinVar
Path
N4 — NMD-escape, minor truncation — highest druggability
Q112TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
112
ClinVar
Path
N1 — NMD-targeted — null allele
Q136TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
136
ClinVar
Path
N1 — NMD-targeted — null allele
Q20TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
20
ClinVar
Path
N1 — NMD-targeted — null allele
Q215TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
215
ClinVar
P/LP
N1 — NMD-targeted — null allele
Q226TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
226
ClinVar
Path
N1 — NMD-targeted — null allele
Q486TerNonsense
Lumenal loop 3
Schema
N3
Position
486
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
Q520TerNonsense
Cytoplasmic loop 4
Schema
N3
Position
520
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
Q584TerNonsense
Transmembrane helix 9
Schema
N3
Position
584
ClinVar
Uncertain significance
N3 — NMD-escape, moderate truncation — chaperone exploration
Q667TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
667
ClinVar
P/LP
N3 — NMD-escape, moderate truncation — chaperone exploration
Q668TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
668
ClinVar
P/LP
N3 — NMD-escape, moderate truncation — chaperone exploration
Q687TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
687
ClinVar
P/LP
N3 — NMD-escape, moderate truncation — chaperone exploration
Q819TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N4
Position
819
ClinVar
Path
N4 — NMD-escape, minor truncation — highest druggability
R26TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
26
ClinVar
Path
N1 — NMD-targeted — null allele
R42TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
42
ClinVar
P/LP
N1 — NMD-targeted — null allele
S430TerNonsense
Lumenal loop 2
Schema
N2
Position
430
ClinVar
P/LP
N2 — NMD-escape, major truncation — gene therapy track
S654TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
654
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
S790TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N4
Position
790
ClinVar
Path
N4 — NMD-escape, minor truncation — highest druggability
S888TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N4
Position
888
ClinVar
Conf
N4 — NMD-escape, minor truncation — highest druggability
W129TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
129
ClinVar
P/LP
N1 — NMD-targeted — null allele
W478TerNonsense
Transmembrane helix 6
Schema
N3
Position
478
ClinVar
P/LP
N3 — NMD-escape, moderate truncation — chaperone exploration
W540TerNonsense
Transmembrane helix 8
Schema
N3
Position
540
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
W588TerNonsense
Transmembrane helix 9
Schema
N3
Position
588
ClinVar
Conf
N3 — NMD-escape, moderate truncation — chaperone exploration
W612TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
612
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
W613TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
613
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
W639TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
639
ClinVar
LP
N3 — NMD-escape, moderate truncation — chaperone exploration
W648TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
648
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
W666TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
666
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
W678TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
678
ClinVar
LP
N3 — NMD-escape, moderate truncation — chaperone exploration
W700TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
700
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
W730TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N4
Position
730
ClinVar
P/LP
N4 — NMD-escape, minor truncation — highest druggability
W867TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N4
Position
867
ClinVar
P/LP
N4 — NMD-escape, minor truncation — highest druggability
Y110TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
110
ClinVar
Path
N1 — NMD-targeted — null allele
Y254TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
254
ClinVar
Path
N1 — NMD-targeted — null allele
Y291TerNonsense
N-terminal cytoplasmic (intrinsically disordered)
Schema
N1
Position
291
ClinVar
Path
N1 — NMD-targeted — null allele
Y454TerNonsense
Cytoplasmic loop 3
Schema
N3
Position
454
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
Y510TerNonsense
Transmembrane helix 7
Schema
N3
Position
510
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
Y652TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
652
ClinVar
Path
N3 — NMD-escape, moderate truncation — chaperone exploration
Y669TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N3
Position
669
ClinVar
P/LP
N3 — NMD-escape, moderate truncation — chaperone exploration
Y735TerNonsense
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
N4
Position
735
ClinVar
Path
N4 — NMD-escape, minor truncation — highest druggability
c.1002C_TSynonymous
Cytoplasmic loop 1
Schema
Silent
Position
334
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.1008C_GSynonymous
Cytoplasmic loop 1
Schema
Silent
Position
336
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1008_1018delFrameshift
Cytoplasmic loop 1
Schema
F2
Position
337
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1013_1014delFrameshift
Cytoplasmic loop 1
Schema
F2
Position
338
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1014C_ASynonymous
Cytoplasmic loop 1
Schema
Silent
Position
338
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1014C_TSynonymous
Cytoplasmic loop 1
Schema
Silent
Position
338
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.1017C_TSynonymous
Cytoplasmic loop 1
Schema
Silent
Position
339
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1020C_TSynonymous
Cytoplasmic loop 1
Schema
Silent
Position
340
ClinVar
Benign
Silent — Silent — no amino-acid change
c.1021_1032delIn-frame indel
Transmembrane helix 2
Schema
I3
Position
341
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1023C_TSynonymous
Transmembrane helix 2
Schema
Silent
Position
341
ClinVar
Benign
Silent — Silent — no amino-acid change
c.1024_1032delIn-frame indel
Transmembrane helix 2
Schema
I3
Position
342
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1024_1032dupIn-frame indel
Transmembrane helix 2
Schema
I3
Position
342
ClinVar
LP
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1026C_TSynonymous
Transmembrane helix 2
Schema
Silent
Position
342
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1027_1028delFrameshift
Transmembrane helix 2
Schema
F2
Position
343
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1029C_TSynonymous
Transmembrane helix 2
Schema
Silent
Position
343
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1032C_TSynonymous
Transmembrane helix 2
Schema
Silent
Position
344
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1038G_ASynonymous
Transmembrane helix 2
Schema
Silent
Position
346
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1047C_TSynonymous
Transmembrane helix 2
Schema
Silent
Position
349
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1056G_CSynonymous
Transmembrane helix 2
Schema
Silent
Position
352
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1059C_ASynonymous
Transmembrane helix 2
Schema
Silent
Position
353
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1059C_TSynonymous
Transmembrane helix 2
Schema
Silent
Position
353
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1060_1062delIn-frame indel
Transmembrane helix 2
Schema
I1
Position
354
ClinVar
Conf
I1 — Single-residue deletion in a transmembrane helix — likely catastrophic kink
c.1068C_TSynonymous
Transmembrane helix 2
Schema
Silent
Position
356
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1080C_TSynonymous
Transmembrane helix 2
Schema
Silent
Position
360
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1088dupFrameshift
Lumenal loop 1
Schema
F2
Position
364
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1089G_ASynonymous
Lumenal loop 1
Schema
Silent
Position
363
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.108G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
36
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1101C_TSynonymous
Lumenal loop 1
Schema
Silent
Position
367
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1104_1105insTFrameshift
Lumenal loop 1
Schema
F1
Position
369
ClinVar
LP
F1 — Frameshift, NMD-targeted — null allele
c.1107_1108insAFrameshift
Lumenal loop 1
Schema
F2
Position
370
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1110C_GSynonymous
Lumenal loop 1
Schema
Silent
Position
370
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1110C_TSynonymous
Lumenal loop 1
Schema
Silent
Position
370
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1125C_TSynonymous
Transmembrane helix 3
Schema
Silent
Position
375
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1134C_ASynonymous
Transmembrane helix 3
Schema
Silent
Position
378
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1134C_GSynonymous
Transmembrane helix 3
Schema
Silent
Position
378
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1134C_TSynonymous
Transmembrane helix 3
Schema
Silent
Position
378
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1141C_TSynonymous
Transmembrane helix 3
Schema
Silent
Position
381
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.1143G_ASynonymous
Transmembrane helix 3
Schema
Silent
Position
381
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1149C_TSynonymous
Transmembrane helix 3
Schema
Silent
Position
383
ClinVar
Conf
Silent — Silent — no amino-acid change
c.114C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
38
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1152C_TSynonymous
Transmembrane helix 3
Schema
Silent
Position
384
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1158C_GSynonymous
Transmembrane helix 3
Schema
Silent
Position
386
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1158C_TSynonymous
Transmembrane helix 3
Schema
Silent
Position
386
ClinVar
Benign
Silent — Silent — no amino-acid change
c.1167T_CSynonymous
Transmembrane helix 3
Schema
Silent
Position
389
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1170G_ASynonymous
Transmembrane helix 3
Schema
Silent
Position
390
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1173G_ASynonymous
Transmembrane helix 3
Schema
Silent
Position
391
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1179C_GSynonymous
Cytoplasmic loop 2
Schema
Silent
Position
393
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1179C_TSynonymous
Cytoplasmic loop 2
Schema
Silent
Position
393
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1182G_ASynonymous
Cytoplasmic loop 2
Schema
Silent
Position
394
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1185C_GSynonymous
Cytoplasmic loop 2
Schema
Silent
Position
395
ClinVar
Benign
Silent — Silent — no amino-acid change
c.1185C_TSynonymous
Cytoplasmic loop 2
Schema
Silent
Position
395
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1188C_TSynonymous
Cytoplasmic loop 2
Schema
Silent
Position
396
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1191C_TSynonymous
Cytoplasmic loop 2
Schema
Silent
Position
397
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1194C_ASynonymous
Cytoplasmic loop 2
Schema
Silent
Position
398
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1194C_TSynonymous
Cytoplasmic loop 2
Schema
Silent
Position
398
ClinVar
Benign
Silent — Silent — no amino-acid change
c.1204C_TSynonymous
Transmembrane helix 4
Schema
Silent
Position
402
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1215T_CSynonymous
Transmembrane helix 4
Schema
Silent
Position
405
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1218C_TSynonymous
Transmembrane helix 4
Schema
Silent
Position
406
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1221T_CSynonymous
Transmembrane helix 4
Schema
Silent
Position
407
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1224C_TSynonymous
Transmembrane helix 4
Schema
Silent
Position
408
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1227G_ASynonymous
Transmembrane helix 4
Schema
Silent
Position
409
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1228delFrameshift
Transmembrane helix 4
Schema
F2
Position
410
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1230C_GSynonymous
Transmembrane helix 4
Schema
Silent
Position
410
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1230C_TSynonymous
Transmembrane helix 4
Schema
Silent
Position
410
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1230_1233delFrameshift
Transmembrane helix 4
Schema
F2
Position
412
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1232_1233delFrameshift
Transmembrane helix 4
Schema
F2
Position
411
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1233T_CSynonymous
Transmembrane helix 4
Schema
Silent
Position
411
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1233T_GSynonymous
Transmembrane helix 4
Schema
Silent
Position
411
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1234_1237delFrameshift
Transmembrane helix 4
Schema
F2
Position
412
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1236C_TSynonymous
Transmembrane helix 4
Schema
Silent
Position
412
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1239C_TSynonymous
Transmembrane helix 4
Schema
Silent
Position
413
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1242C_TSynonymous
Transmembrane helix 4
Schema
Silent
Position
414
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.1243_1245delIn-frame indel
Transmembrane helix 4
Schema
I1
Position
415
ClinVar
Path
I1 — Single-residue deletion in a transmembrane helix — likely catastrophic kink
c.1243_1251dupIn-frame indel
Transmembrane helix 4
Schema
I3
Position
415
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1248C_TSynonymous
Transmembrane helix 4
Schema
Silent
Position
416
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.124delFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
42
ClinVar
Path
F1 — Frameshift, NMD-targeted — null allele
c.1251C_TSynonymous
Transmembrane helix 4
Schema
Silent
Position
417
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1251_1252delFrameshift
Transmembrane helix 4
Schema
F2
Position
418
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1251delFrameshift
Transmembrane helix 4
Schema
F2
Position
418
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1263C_TSynonymous
Transmembrane helix 4
Schema
Silent
Position
421
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1272G_ASynonymous
Lumenal loop 2
Schema
Silent
Position
424
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1278C_TSynonymous
Lumenal loop 2
Schema
Silent
Position
426
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1281C_ASynonymous
Lumenal loop 2
Schema
Silent
Position
427
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1290G_ASynonymous
Lumenal loop 2
Schema
Silent
Position
430
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1294C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
432
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.129A_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
43
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1302C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
434
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1305C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
435
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1308C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
436
ClinVar
Benign
Silent — Silent — no amino-acid change
c.1311C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
437
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1312_1320dupIn-frame indel
Transmembrane helix 5
Schema
I3
Position
438
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1313dupFrameshift
Transmembrane helix 5
Schema
F2
Position
439
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1314C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
438
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1320C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
440
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1326C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
442
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1329C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
443
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.132C_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
44
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.132C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
44
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1332C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
444
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1335G_CSynonymous
Transmembrane helix 5
Schema
Silent
Position
445
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1344C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
448
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1347C_TSynonymous
Transmembrane helix 5
Schema
Silent
Position
449
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1350T_CSynonymous
Transmembrane helix 5
Schema
Silent
Position
450
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1353A_GSynonymous
Transmembrane helix 5
Schema
Silent
Position
451
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1355_1370delFrameshift
Transmembrane helix 5
Schema
F2
Position
452
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1359C_TSynonymous
Cytoplasmic loop 3
Schema
Silent
Position
453
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1362C_TSynonymous
Cytoplasmic loop 3
Schema
Silent
Position
454
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1362_1377delFrameshift
Cytoplasmic loop 3
Schema
F2
Position
454
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1365G_ASynonymous
Cytoplasmic loop 3
Schema
Silent
Position
455
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1368C_TSynonymous
Cytoplasmic loop 3
Schema
Silent
Position
456
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1377G_ASynonymous
Cytoplasmic loop 3
Schema
Silent
Position
459
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1377G_CSynonymous
Cytoplasmic loop 3
Schema
Silent
Position
459
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1381_1383delIn-frame indel
Cytoplasmic loop 3
Schema
I2
Position
461
ClinVar
Uncertain significance
I2 — Single-residue deletion in a soluble domain — variable impact
c.1383C_GSynonymous
Cytoplasmic loop 3
Schema
Silent
Position
461
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1383C_TSynonymous
Cytoplasmic loop 3
Schema
Silent
Position
461
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1385_1393delIn-frame indel
Transmembrane helix 6
Schema
I3
Position
462
ClinVar
LP
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1389C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
463
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.138C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
46
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1392C_GSynonymous
Transmembrane helix 6
Schema
Silent
Position
464
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1392C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
464
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1395C_GSynonymous
Transmembrane helix 6
Schema
Silent
Position
465
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1395C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
465
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1398C_ASynonymous
Transmembrane helix 6
Schema
Silent
Position
466
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1398C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
466
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1399C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
467
ClinVar
Conf
Silent — Silent — no amino-acid change
c.13dupFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
5
ClinVar
Path
F1 — Frameshift, NMD-targeted — null allele
c.1401G_ASynonymous
Transmembrane helix 6
Schema
Silent
Position
467
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1401_1403delIn-frame indel
Transmembrane helix 6
Schema
I1
Position
467
ClinVar
P/LP
I1 — Single-residue deletion in a transmembrane helix — likely catastrophic kink
c.1404A_GSynonymous
Transmembrane helix 6
Schema
Silent
Position
468
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1407G_ASynonymous
Transmembrane helix 6
Schema
Silent
Position
469
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1408C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
470
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1410G_ASynonymous
Transmembrane helix 6
Schema
Silent
Position
470
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1410G_CSynonymous
Transmembrane helix 6
Schema
Silent
Position
470
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1411C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
471
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1416C_ASynonymous
Transmembrane helix 6
Schema
Silent
Position
472
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1416C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
472
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1419C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
473
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1419_1427delIn-frame indel
Transmembrane helix 6
Schema
I3
Position
473
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1425C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
475
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1437C_GSynonymous
Transmembrane helix 6
Schema
Silent
Position
479
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1437C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
479
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1441C_TSynonymous
Transmembrane helix 6
Schema
Silent
Position
481
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1441_1447dupFrameshift
Lumenal loop 3
Schema
F2
Position
483
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1443G_ASynonymous
Transmembrane helix 6
Schema
Silent
Position
481
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1446G_ASynonymous
Transmembrane helix 6
Schema
Silent
Position
482
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1449C_GSynonymous
Lumenal loop 3
Schema
Silent
Position
483
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1452T_CSynonymous
Lumenal loop 3
Schema
Silent
Position
484
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1452T_GSynonymous
Lumenal loop 3
Schema
Silent
Position
484
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1458G_ASynonymous
Lumenal loop 3
Schema
Silent
Position
486
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1461C_TSynonymous
Lumenal loop 3
Schema
Silent
Position
487
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1462_1464delIn-frame indel
Lumenal loop 3
Schema
I2
Position
488
ClinVar
Uncertain significance
I2 — Single-residue deletion in a soluble domain — variable impact
c.1467C_TSynonymous
Lumenal loop 3
Schema
Silent
Position
489
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1470C_TSynonymous
Lumenal loop 3
Schema
Silent
Position
490
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1476T_CSynonymous
Lumenal loop 3
Schema
Silent
Position
492
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1479C_ASynonymous
Lumenal loop 3
Schema
Silent
Position
493
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1479C_TSynonymous
Lumenal loop 3
Schema
Silent
Position
493
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1486C_TSynonymous
Lumenal loop 3
Schema
Silent
Position
496
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1488G_ASynonymous
Lumenal loop 3
Schema
Silent
Position
496
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1491C_TSynonymous
Transmembrane helix 7
Schema
Silent
Position
497
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1491_1492insTFrameshift
Transmembrane helix 7
Schema
F2
Position
498
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1494C_TSynonymous
Transmembrane helix 7
Schema
Silent
Position
498
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1495_1497delIn-frame indel
Transmembrane helix 7
Schema
I1
Position
499
ClinVar
Uncertain significance
I1 — Single-residue deletion in a transmembrane helix — likely catastrophic kink
c.1499_1500delFrameshift
Transmembrane helix 7
Schema
F2
Position
500
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.149delFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
50
ClinVar
LP
F1 — Frameshift, NMD-targeted — null allele
c.1500C_TSynonymous
Transmembrane helix 7
Schema
Silent
Position
500
ClinVar
Conf
Silent — Silent — no amino-acid change
Transmembrane helix 7
Schema
F2
Position
501
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1503C_TSynonymous
Transmembrane helix 7
Schema
Silent
Position
501
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1504_1527dupIn-frame indel
Transmembrane helix 7
Schema
I3
Position
502
ClinVar
LP
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1506C_TSynonymous
Transmembrane helix 7
Schema
Silent
Position
502
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1509C_TSynonymous
Transmembrane helix 7
Schema
Silent
Position
503
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1512G_ASynonymous
Transmembrane helix 7
Schema
Silent
Position
504
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1512G_CSynonymous
Transmembrane helix 7
Schema
Silent
Position
504
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1523_1524delFrameshift
Transmembrane helix 7
Schema
F2
Position
508
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1525_1539delIn-frame indel
Transmembrane helix 7
Schema
I3
Position
509
ClinVar
P/LP
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1525_1539dupIn-frame indel
Transmembrane helix 7
Schema
I3
Position
509
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1529_1543delIn-frame indel
Transmembrane helix 7
Schema
I3
Position
510
ClinVar
P/LP
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1530C_TSynonymous
Transmembrane helix 7
Schema
Silent
Position
510
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1533G_ASynonymous
Transmembrane helix 7
Schema
Silent
Position
511
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1533G_CSynonymous
Transmembrane helix 7
Schema
Silent
Position
511
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1536C_TSynonymous
Transmembrane helix 7
Schema
Silent
Position
512
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1536_1549dupFrameshift
Transmembrane helix 7
Schema
F2
Position
517
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1538_1539dupFrameshift
Transmembrane helix 7
Schema
F2
Position
514
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1544_1545insAFrameshift
Transmembrane helix 7
Schema
F2
Position
515
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1545C_TSynonymous
Transmembrane helix 7
Schema
Silent
Position
515
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1549delFrameshift
Transmembrane helix 7
Schema
F2
Position
517
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1551C_TSynonymous
Transmembrane helix 7
Schema
Silent
Position
517
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1557A_GSynonymous
Cytoplasmic loop 4
Schema
Silent
Position
519
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1560G_ASynonymous
Cytoplasmic loop 4
Schema
Silent
Position
520
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1563G_ASynonymous
Cytoplasmic loop 4
Schema
Silent
Position
521
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1566G_ASynonymous
Cytoplasmic loop 4
Schema
Silent
Position
522
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1578C_TSynonymous
Cytoplasmic loop 4
Schema
Silent
Position
526
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1581C_GSynonymous
Cytoplasmic loop 4
Schema
Silent
Position
527
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1596G_ASynonymous
Cytoplasmic loop 4
Schema
Silent
Position
532
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1602C_TSynonymous
Transmembrane helix 8
Schema
Silent
Position
534
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1603C_TSynonymous
Transmembrane helix 8
Schema
Silent
Position
535
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1605G_ASynonymous
Transmembrane helix 8
Schema
Silent
Position
535
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1605G_CSynonymous
Transmembrane helix 8
Schema
Silent
Position
535
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1608G_ASynonymous
Transmembrane helix 8
Schema
Silent
Position
536
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1608G_CSynonymous
Transmembrane helix 8
Schema
Silent
Position
536
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1611C_TSynonymous
Transmembrane helix 8
Schema
Silent
Position
537
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1611_1624delFrameshift
Transmembrane helix 8
Schema
F2
Position
537
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1619_1642dupIn-frame indel
Transmembrane helix 8
Schema
I3
Position
540
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1629C_TSynonymous
Transmembrane helix 8
Schema
Silent
Position
543
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1632C_TSynonymous
Transmembrane helix 8
Schema
Silent
Position
544
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1641C_TSynonymous
Transmembrane helix 8
Schema
Silent
Position
547
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1644G_ASynonymous
Transmembrane helix 8
Schema
Silent
Position
548
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1644G_CSynonymous
Transmembrane helix 8
Schema
Silent
Position
548
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1653C_ASynonymous
Transmembrane helix 8
Schema
Silent
Position
551
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1653C_TSynonymous
Transmembrane helix 8
Schema
Silent
Position
551
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1656C_ASynonymous
Transmembrane helix 8
Schema
Silent
Position
552
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1656C_GSynonymous
Transmembrane helix 8
Schema
Silent
Position
552
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1656C_TSynonymous
Transmembrane helix 8
Schema
Silent
Position
552
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1659C_TSynonymous
Transmembrane helix 8
Schema
Silent
Position
553
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1660C_TSynonymous
Lumenal loop 4
Schema
Silent
Position
554
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1661_1687delIn-frame indel
Lumenal loop 4
Schema
I3
Position
554
ClinVar
Path
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1662G_ASynonymous
Lumenal loop 4
Schema
Silent
Position
554
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1662G_CSynonymous
Lumenal loop 4
Schema
Silent
Position
554
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1670_1671insAFrameshift
Lumenal loop 4
Schema
F2
Position
558
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1671C_GSynonymous
Lumenal loop 4
Schema
Silent
Position
557
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1671C_TSynonymous
Lumenal loop 4
Schema
Silent
Position
557
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1674C_GSynonymous
Lumenal loop 4
Schema
Silent
Position
558
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1674C_TSynonymous
Lumenal loop 4
Schema
Silent
Position
558
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1680C_TSynonymous
Lumenal loop 4
Schema
Silent
Position
560
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1683C_TSynonymous
Lumenal loop 4
Schema
Silent
Position
561
ClinVar
Benign
Silent — Silent — no amino-acid change
c.1686C_GSynonymous
Lumenal loop 4
Schema
Silent
Position
562
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.168C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
56
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1692C_TSynonymous
Lumenal loop 4
Schema
Silent
Position
564
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1695C_GSynonymous
Lumenal loop 4
Schema
Silent
Position
565
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1695C_TSynonymous
Lumenal loop 4
Schema
Silent
Position
565
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1698C_TSynonymous
Lumenal loop 4
Schema
Silent
Position
566
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1699_1704delIn-frame indel
Lumenal loop 4
Schema
I3
Position
567
ClinVar
LP
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1699_1704dupIn-frame indel
Lumenal loop 4
Schema
I3
Position
567
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1705_1706delFrameshift
Lumenal loop 4
Schema
F2
Position
569
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1713C_GSynonymous
Lumenal loop 4
Schema
Silent
Position
571
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1713C_TSynonymous
Lumenal loop 4
Schema
Silent
Position
571
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1714_1731delIn-frame indel
Lumenal loop 4
Schema
I3
Position
572
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.1719G_ASynonymous
Lumenal loop 4
Schema
Silent
Position
573
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1722G_ASynonymous
Transmembrane helix 9
Schema
Silent
Position
574
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1725C_TSynonymous
Transmembrane helix 9
Schema
Silent
Position
575
ClinVar
Benign
Silent — Silent — no amino-acid change
c.1728C_ASynonymous
Transmembrane helix 9
Schema
Silent
Position
576
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1728C_GSynonymous
Transmembrane helix 9
Schema
Silent
Position
576
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1731G_ASynonymous
Transmembrane helix 9
Schema
Silent
Position
577
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1734C_TSynonymous
Transmembrane helix 9
Schema
Silent
Position
578
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1737G_ASynonymous
Transmembrane helix 9
Schema
Silent
Position
579
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1740G_ASynonymous
Transmembrane helix 9
Schema
Silent
Position
580
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1740G_TSynonymous
Transmembrane helix 9
Schema
Silent
Position
580
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1743C_TSynonymous
Transmembrane helix 9
Schema
Silent
Position
581
ClinVar
Conf
Silent — Silent — no amino-acid change
c.174G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
58
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1752G_ASynonymous
Transmembrane helix 9
Schema
Silent
Position
584
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1755C_TSynonymous
Transmembrane helix 9
Schema
Silent
Position
585
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1758C_TSynonymous
Transmembrane helix 9
Schema
Silent
Position
586
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1761G_CSynonymous
Transmembrane helix 9
Schema
Silent
Position
587
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1767C_TSynonymous
Transmembrane helix 9
Schema
Silent
Position
589
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1770G_ASynonymous
Transmembrane helix 9
Schema
Silent
Position
590
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.177C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
59
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1785C_TSynonymous
Cytoplasmic loop 5 / pre-lumenal
Schema
Silent
Position
595
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1791C_TSynonymous
Cytoplasmic loop 5 / pre-lumenal
Schema
Silent
Position
597
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1792_1793delFrameshift
Cytoplasmic loop 5 / pre-lumenal
Schema
F2
Position
598
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1797C_ASynonymous
Cytoplasmic loop 5 / pre-lumenal
Schema
Silent
Position
599
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1797C_TSynonymous
Cytoplasmic loop 5 / pre-lumenal
Schema
Silent
Position
599
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1800C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
600
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1800C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
600
ClinVar
Benign
Silent — Silent — no amino-acid change
c.1806G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
602
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1806G_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
602
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1806G_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
602
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.180C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
60
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1818G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
606
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1821C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
607
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1821C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
607
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1824G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
608
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1825C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
609
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1829delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
610
ClinVar
Conf
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1831_1832delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
611
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1832_1833delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
611
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1833C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
611
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1846dupFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
616
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1857T_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
619
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1863G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
621
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1863G_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
621
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1872G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
624
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1872G_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
624
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1875G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
625
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1878C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
626
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1879C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
627
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1884G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
628
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1893C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
631
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1893C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
631
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1899C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
633
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1902G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
634
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1908C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
636
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1923G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
641
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1926C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
642
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1929C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
643
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.192G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
64
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1935G_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
645
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1936_1943delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
646
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1938C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
646
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1947C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
649
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.1949_1950delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
650
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1956C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
652
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1963_1964delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
655
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.1977C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
659
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1980C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
660
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.1986C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
662
ClinVar
Conf
Silent — Silent — no amino-acid change
c.1990_1991delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
664
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2001G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
667
ClinVar
Benign
Silent — Silent — no amino-acid change
c.2013G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
671
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2013G_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
671
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2014C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
672
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.2016G_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
672
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2017_2018delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
673
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2019C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
673
ClinVar
Benign
Silent — Silent — no amino-acid change
c.2026_2027insAFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
676
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2028C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
676
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2031C_GSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
677
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2038_2040delIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I2
Position
680
ClinVar
Conf
I2 — Single-residue deletion in a soluble domain — variable impact
c.2040G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
680
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.204C_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
68
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.2052G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
684
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2058C_GSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
686
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2070_2079delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
690
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2077C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
693
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.207G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
69
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.2080_2105delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
694
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2082G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
694
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2085C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
695
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2103C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
701
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2103delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
702
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2118C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
706
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2121C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
707
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2124C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
708
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2127G_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
709
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2136C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
712
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2136C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
712
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2141_2164delIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I3
Position
714
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.2141_2164dupIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I3
Position
714
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.2142C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
714
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2145C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
715
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2148C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
716
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2154T_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
718
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2157C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
719
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2160C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
720
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2172G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
724
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2178C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
726
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2181C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
727
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2184C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
728
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2187C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
729
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2195_2217dupFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
740
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.21G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
7
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.21G_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
7
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.21G_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
7
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2202C_GSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
734
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2202C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
734
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2205C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
735
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2208C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
736
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2208_2211delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
737
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2217C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
739
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2223C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
741
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2224dupFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
742
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2232T_GSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
744
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2235C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
745
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2247G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
749
ClinVar
Benign
Silent — Silent — no amino-acid change
c.2250C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
750
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2250C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
750
ClinVar
Conf
Silent — Silent — no amino-acid change
c.225C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
75
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2262C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
754
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2268C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
756
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2275C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
759
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2283C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
761
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2286G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
762
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.228C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
76
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2293delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
765
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2298C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
766
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.229_230delFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
77
ClinVar
P/LP
F1 — Frameshift, NMD-targeted — null allele
c.2310C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
770
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2314_2315insTFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
772
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2316C_GSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
772
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.231C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
77
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.231C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
77
ClinVar
Conf
Silent — Silent — no amino-acid change
c.232_13G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
78
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.232_140C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
78
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.232_15T_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
78
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.232_225C_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
78
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.232_3A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
78
ClinVar
Uncertain significance
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.07)
c.232_45T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
78
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.232_5G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
78
ClinVar
Uncertain significance
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.10)
c.232_90G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
78
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.2321dupFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
775
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2322G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
774
ClinVar
Benign
Silent — Silent — no amino-acid change
c.233-18G_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
78
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.233-4197T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
78
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.2331dupFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
778
ClinVar
LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2334C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
778
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2337G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
779
ClinVar
Benign
Silent — Silent — no amino-acid change
c.2337G_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
779
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.2340C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
780
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2349C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
783
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.234G_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
78
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2352C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
784
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2355C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
785
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2358C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
786
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2359_2360delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
787
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2364C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
788
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2368_2391delIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I3
Position
790
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.2370G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
790
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2370G_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
790
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2370G_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
790
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2373C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
791
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2379C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
793
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2385G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
795
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2385_2390delIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I3
Position
795
ClinVar
P/LP
I3 — Multi-residue in-frame indel — likely major structural disruption
c.2388C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
796
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2390_2391insACGIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I2
Position
797
ClinVar
Conf
I2 — Single-residue deletion in a soluble domain — variable impact
c.2391C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
797
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2394C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
798
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2397C_GSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
799
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2406C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
802
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2410C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
804
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2424C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
808
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2427G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
809
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2432_2433delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
812
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2433G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
811
ClinVar
Benign
Silent — Silent — no amino-acid change
c.2436C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
812
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2445C_GSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
815
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2445C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
815
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2452_2454delIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I2
Position
818
ClinVar
P/LP
I2 — Single-residue deletion in a soluble domain — variable impact
c.2454C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
818
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2455_2502delIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I3
Position
819
ClinVar
Conf
I3 — Multi-residue in-frame indel — likely major structural disruption
c.2466C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
822
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2466C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
822
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2469C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
823
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2481C_GSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
827
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2481C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
827
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2484C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
828
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2487G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
829
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2499G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
833
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2499G_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
833
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2502C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
834
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2514T_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
838
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2520C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
840
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2526C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
842
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2529G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
843
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2529_2546delIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I3
Position
843
ClinVar
LP
I3 — Multi-residue in-frame indel — likely major structural disruption
c.2532C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
844
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2536_2539dupFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
847
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2538C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
846
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2550C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
850
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2552_2553dupFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
852
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2554dupFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
852
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2555_2560dupIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I3
Position
852
ClinVar
Conf
I3 — Multi-residue in-frame indel — likely major structural disruption
c.2556C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
852
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2563_2565delIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I2
Position
855
ClinVar
P/LP
I2 — Single-residue deletion in a soluble domain — variable impact
c.2565A_GSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
855
ClinVar
Benign
Silent — Silent — no amino-acid change
c.2565A_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
855
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2571C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
857
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2575C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
859
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2580C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
860
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2585_2587delIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I2
Position
862
ClinVar
Path
I2 — Single-residue deletion in a soluble domain — variable impact
c.2589C_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
863
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2589C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
863
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2595C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
865
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2605_2616dupIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I3
Position
869
ClinVar
LP
I3 — Multi-residue in-frame indel — likely major structural disruption
c.2607C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
869
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2610C_GSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
870
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2610C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
870
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2613G_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
871
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2614_2625delIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I3
Position
872
ClinVar
Conf
I3 — Multi-residue in-frame indel — likely major structural disruption
c.2616T_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
872
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2619C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
873
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2622C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
874
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2625G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
875
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2631C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
877
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2637C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
879
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2638_2643delIn-frame indel
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
I3
Position
880
ClinVar
Conf
I3 — Multi-residue in-frame indel — likely major structural disruption
c.2640C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
880
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2643_2644delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
883
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2643_2646delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
882
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2648_2651delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
883
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2649delFrameshift
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
F2
Position
884
ClinVar
Path
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.2655A_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
885
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2655A_GSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
885
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2658C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
886
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2659C_TSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
887
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2664G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
888
ClinVar
Conf
Silent — Silent — no amino-acid change
c.2664G_CSynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
888
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.2667G_ASynonymous
C-terminal ER-lumenal (calcium binding, calmodulin, chaperone)
Schema
Silent
Position
889
ClinVar
Conf
Silent — Silent — no amino-acid change
c.273C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
91
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.276G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
92
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.285C_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
95
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.291C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
97
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.297C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
99
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.300C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
100
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.315_11C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
105
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.315_12G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
105
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.315_17C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
105
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.315_18G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
105
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.315_18G_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
105
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.315_20C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
105
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.315_236A_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
105
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.315_29C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
105
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.316-120T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
106
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.316-13G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
106
ClinVar
Uncertain significance
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.316-14T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
106
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.316-14T_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
106
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.316-164A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
106
ClinVar
Likely benign
S3 — Cryptic donor activation predicted (SpliceAI ΔS 0.53)
c.316-18C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
106
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.316-225G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
106
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.316-235C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
106
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.316-2A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S2
Position
106
ClinVar
Path
S2 — Predicted frameshift skip of exon 4 (145 nt)
c.316-37C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
106
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.316-9G_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
106
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.318G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
106
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.327C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
109
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.333G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
111
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.336G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
112
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.337T_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
113
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.33C_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
11
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.342C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
114
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.345C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
115
ClinVar
Conf
Silent — Silent — no amino-acid change
c.351G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
117
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.363C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
121
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.375C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
125
ClinVar
Conf
Silent — Silent — no amino-acid change
c.381G_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
127
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.386_398delFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
129
ClinVar
Path
F1 — Frameshift, NMD-targeted — null allele
c.393C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
131
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.396C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
132
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.396C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
132
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.399C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
133
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.402G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
134
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.408G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
136
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.409_424dupFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
142
ClinVar
P/LP
F1 — Frameshift, NMD-targeted — null allele
c.417C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
139
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.417C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
139
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.439delFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
147
ClinVar
Path
F1 — Frameshift, NMD-targeted — null allele
c.444C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
148
ClinVar
Conf
Silent — Silent — no amino-acid change
c.445T_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
149
ClinVar
Conf
Silent — Silent — no amino-acid change
c.450G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
150
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.453C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
151
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.456A_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
152
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.457A_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
153
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.45C_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
15
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.45C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
15
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.460_11G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.12)
c.460_13G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.460_145C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.460_16G_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Likely benign
S3 — Cryptic donor activation predicted (SpliceAI ΔS 0.21)
c.460_1G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S2
Position
154
ClinVar
Path
S2 — Predicted frameshift skip of exon 4 (145 nt)
c.460_1G_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S2
Position
154
ClinVar
Path
S2 — Predicted frameshift skip of exon 4 (145 nt)
c.460_4G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Uncertain significance
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.02)
c.460_5G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Uncertain significance
S3 — Cryptic donor activation predicted (SpliceAI ΔS 0.67)
c.460_7C_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Likely benign
S3 — Cryptic donor activation predicted (SpliceAI ΔS 0.56)
c.460_9G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.02)
c.461-106C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.461-125A_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.461-15C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.461-18C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.461-208G_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.461-244C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.461-281G_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.461-6C_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.461-7C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.461-91G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.461-9A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
154
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.468G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
156
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.468G_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
156
ClinVar
Conf
Silent — Silent — no amino-acid change
c.471C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
157
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.471C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
157
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.477C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
159
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.483G_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
161
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.489G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
163
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.48G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
16
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.498C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
166
ClinVar
Conf
Silent — Silent — no amino-acid change
c.498C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
166
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.504C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
168
ClinVar
Conf
Silent — Silent — no amino-acid change
c.510C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
170
ClinVar
Benign
Silent — Silent — no amino-acid change
c.510C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
170
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.514C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
172
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.525C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
175
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.528_531dupFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
178
ClinVar
Uncertain significance
F1 — Frameshift, NMD-targeted — null allele
c.541C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
181
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.543G_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
181
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.567C_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
189
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.578dupFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
194
ClinVar
Conf
F1 — Frameshift, NMD-targeted — null allele
c.57G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
19
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.57G_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
19
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.57_64dupFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
22
ClinVar
Path
F1 — Frameshift, NMD-targeted — null allele
c.588C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
196
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.591G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
197
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.594G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
198
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.599delFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
200
ClinVar
Path
F1 — Frameshift, NMD-targeted — null allele
c.612C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
204
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.615C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
205
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.615C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
205
ClinVar
Conf
Silent — Silent — no amino-acid change
c.624C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
208
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.630C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
210
ClinVar
Conf
Silent — Silent — but near an exon boundary (splice effect possible)
c.631_11T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.07)
c.631_12C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.631_143C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.631_14C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.631_164G_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.07)
c.631_18G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.03)
c.631_1G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S1
Position
211
ClinVar
LP
S1 — Predicted in-frame skip of exon 5 (Δ58 aa)
c.631_20G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.14)
c.631_256T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.08)
c.631_2T_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S1
Position
211
ClinVar
P/LP
S1 — Predicted in-frame skip of exon 5 (Δ58 aa)
c.631_3G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S1
Position
211
ClinVar
Uncertain significance
S1 — Predicted in-frame skip of exon 5 (Δ58 aa)
c.631_4C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Uncertain significance
S3 — Cryptic donor activation predicted (SpliceAI ΔS 0.96)
c.631_5G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Uncertain significance
S3 — Cryptic donor activation predicted (SpliceAI ΔS 0.29)
c.631_8G_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.12)
c.632-10T_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.03)
c.632-14C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.632-170A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S1
Position
211
ClinVar
Benign
S1 — Predicted in-frame skip of exon 6 (Δ28 aa)
c.632-198T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.02)
c.632-5T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.632-8C_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.632-8C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.632-94G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
211
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.642G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
214
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.654C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
218
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.654C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
218
ClinVar
Conf
Silent — Silent — no amino-acid change
c.660C_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
220
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.660C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
220
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.667C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
223
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.669G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
223
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.672G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
224
ClinVar
Conf
Silent — Silent — no amino-acid change
c.675G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
225
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.682_684delIn-frame indel
N-terminal cytoplasmic (intrinsically disordered)
Schema
I2
Position
228
ClinVar
P/LP
I2 — Single-residue deletion in a soluble domain — variable impact
c.683_684delFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
228
ClinVar
P/LP
F1 — Frameshift, NMD-targeted — null allele
c.684C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
228
ClinVar
Benign
Silent — Silent — no amino-acid change
c.693G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
231
ClinVar
Conf
Silent — Silent — no amino-acid change
c.696C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
232
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.69G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
23
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.702C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
234
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.708C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
236
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.711G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
237
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.712_114A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.19)
c.712_12C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.712_131C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.712_13C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.712_16G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.712_182G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.712_18C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.02)
c.712_195C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.13)
c.712_19C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.712_1G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S1
Position
238
ClinVar
LP
S1 — Predicted in-frame skip of exon 6 (Δ28 aa)
c.712_1G_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S1
Position
238
ClinVar
P/LP
S1 — Predicted in-frame skip of exon 6 (Δ28 aa)
c.712_20C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.712_20C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.712_243G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.712_277A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.03)
c.712_47C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.712_681C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Uncertain significance
S3 — Cryptic donor activation predicted (SpliceAI ΔS 0.67)
c.712_6T_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S1
Position
238
ClinVar
Uncertain significance
S1 — Predicted in-frame skip of exon 6 (Δ28 aa)
c.712_78T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.712_8C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.02)
c.713-1018A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-1024A_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-1075C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-10C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.713-1185C_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-1203C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-1206C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-1219C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-12C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-12C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-1317A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-1317A_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.713-1341C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.02)
c.713-1360G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.06)
c.713-147G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-19G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-1G_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S2
Position
238
ClinVar
LP
S2 — Predicted frameshift skip of exon 7 (149 nt)
c.713-231G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-321G_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.04)
c.713-3C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Uncertain significance
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-4T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-5T_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.15)
c.713-6C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-783G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.713-79C_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-8T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-915C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-945A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-95G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
P/LP
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.713-993C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
238
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.723C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
241
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.726C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
242
ClinVar
Conf
Silent — Silent — no amino-acid change
c.729G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
243
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.735T_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
245
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.740_741delFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
247
ClinVar
Path
F1 — Frameshift, NMD-targeted — null allele
c.747G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
249
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.750C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
250
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.753dupFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
252
ClinVar
LP
F1 — Frameshift, NMD-targeted — null allele
c.762C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
254
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.765C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
255
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.771C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
257
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.784delFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
262
ClinVar
Path
F1 — Frameshift, NMD-targeted — null allele
c.787C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
263
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.789G_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
263
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.795G_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
265
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.801C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
267
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.804C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
268
ClinVar
Conf
Silent — Silent — no amino-acid change
c.812_835delIn-frame indel
N-terminal cytoplasmic (intrinsically disordered)
Schema
I3
Position
271
ClinVar
Uncertain significance
I3 — Multi-residue in-frame indel — likely major structural disruption
c.813T_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
271
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.816C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
272
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.81C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
27
ClinVar
Benign
Silent — Silent — no amino-acid change
c.81C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
27
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.820C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
274
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.825G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
275
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.828G_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
276
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.831G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
277
ClinVar
Likely benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.832_1G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
278
ClinVar
P/LP
S3 — SpliceAI could not score this variant — wet-lab validation
c.837T_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
279
ClinVar
Uncertain significance
Silent — Silent — but near an exon boundary (splice effect possible)
c.837T_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
279
ClinVar
Benign
Silent — Silent — but near an exon boundary (splice effect possible)
c.861_101G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
287
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.861_10C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
287
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.861_15C_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
287
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.861_18C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
287
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.861_19G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
287
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.861_1G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S2
Position
287
ClinVar
Path
S2 — Predicted frameshift skip of exon 7 (149 nt)
c.861_204G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
287
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.861_20G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
287
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.861_266C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
287
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.861_2T_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S2
Position
287
ClinVar
Path
S2 — Predicted frameshift skip of exon 7 (149 nt)
c.861_4A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
287
ClinVar
Uncertain significance
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-10T_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.02)
c.862-118G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-11C_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.862-12T_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.862-13A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-156G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-164C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-16A_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-185C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-18G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-18G_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-19C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-1G_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Path
S3 — Terminal-exon acceptor (3') loss (SpliceAI ΔS 0.99) — intron retention / stop-codon loss
c.862-224G_CSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.02)
c.862-303C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-332A_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)
c.862-3C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Uncertain significance
S3 — Terminal-exon acceptor (3') loss (SpliceAI ΔS 0.30) — intron retention / stop-codon loss
c.862-3C_TSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Uncertain significance
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-4C_GSplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
Likely benign
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)
c.862-6C_ASplice
N-terminal cytoplasmic (intrinsically disordered)
Schema
S3
Position
288
ClinVar
P/LP
S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.02)
c.864G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
288
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.873C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
291
ClinVar
Conf
Silent — Silent — no amino-acid change
c.876C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
292
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.882C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
294
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.888C_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
296
ClinVar
Conf
Silent — Silent — no amino-acid change
c.890_937dupIn-frame indel
N-terminal cytoplasmic (intrinsically disordered)
Schema
I3
Position
297
ClinVar
LP
I3 — Multi-residue in-frame indel — likely major structural disruption
c.894G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
298
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.897C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
299
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.903G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
301
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.906C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
302
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.909G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
303
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.909G_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
303
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.911_914dupFrameshift
N-terminal cytoplasmic (intrinsically disordered)
Schema
F1
Position
306
ClinVar
P/LP
F1 — Frameshift, NMD-targeted — null allele
c.915C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
305
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.924C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
308
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.925A_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
309
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.930A_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
310
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.930A_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
310
ClinVar
Benign
Silent — Silent — no amino-acid change
c.933C_TSynonymous
Transmembrane helix 1
Schema
Silent
Position
311
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.93C_GSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
31
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.943C_TSynonymous
Transmembrane helix 1
Schema
Silent
Position
315
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.951C_TSynonymous
Transmembrane helix 1
Schema
Silent
Position
317
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.958_961delFrameshift
Transmembrane helix 1
Schema
F1
Position
320
ClinVar
P/LP
F1 — Frameshift, NMD-targeted — null allele
c.960C_TSynonymous
Transmembrane helix 1
Schema
Silent
Position
320
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.960delFrameshift
Transmembrane helix 1
Schema
F1
Position
321
ClinVar
Path
F1 — Frameshift, NMD-targeted — null allele
c.963G_ASynonymous
Transmembrane helix 1
Schema
Silent
Position
321
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.966C_TSynonymous
Transmembrane helix 1
Schema
Silent
Position
322
ClinVar
Conf
Silent — Silent — no amino-acid change
c.967_968delFrameshift
Transmembrane helix 1
Schema
F2
Position
324
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.969C_TSynonymous
Transmembrane helix 1
Schema
Silent
Position
323
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.96G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
32
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.96G_CSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
32
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.975C_TSynonymous
Transmembrane helix 1
Schema
Silent
Position
325
ClinVar
Conf
Silent — Silent — no amino-acid change
c.978G_ASynonymous
Transmembrane helix 1
Schema
Silent
Position
326
ClinVar
Benign
Silent — Silent — no amino-acid change
c.978G_CSynonymous
Transmembrane helix 1
Schema
Silent
Position
326
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.981C_TSynonymous
Transmembrane helix 1
Schema
Silent
Position
327
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.987C_TSynonymous
Transmembrane helix 1
Schema
Silent
Position
329
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.990C_TSynonymous
Transmembrane helix 1
Schema
Silent
Position
330
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.993C_TSynonymous
Transmembrane helix 1
Schema
Silent
Position
331
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.994_996dupIn-frame indel
Cytoplasmic loop 1
Schema
I2
Position
332
ClinVar
Uncertain significance
I2 — Single-residue deletion in a soluble domain — variable impact
c.996C_ASynonymous
Cytoplasmic loop 1
Schema
Silent
Position
332
ClinVar
Uncertain significance
Silent — Silent — no amino-acid change
c.996C_TSynonymous
Cytoplasmic loop 1
Schema
Silent
Position
332
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.996_997delFrameshift
Cytoplasmic loop 1
Schema
F2
Position
333
ClinVar
P/LP
F2 — Frameshift, NMD-escape — scrambled C-terminus produced
c.99G_ASynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
33
ClinVar
Likely benign
Silent — Silent — no amino-acid change
c.9C_TSynonymous
N-terminal cytoplasmic (intrinsically disordered)
Schema
Silent
Position
3
ClinVar
Benign
Silent — Silent — no amino-acid change