RareResearch.AI
← Back to atlas

D771Y

Category 3/4 — Most DruggableConflictingLumenal · predictedσ-1 candidateEditorial
AspartateTyrosine at position 771 · C-terminal lumenal domain (653-869) · WFS1 (Wolframin)

Aspartate → Tyrosine at position 771. ClinVar Conflicting. AlphaMissense 0.855, ΔΔG +0.18. Third variant at position 771 — same as D771H plus the N714 network position.

Interactive 3D Structure

Wild-type reference
Wild-type D771 — hydrogen bond to K768
Fullscreen ↗
DynaMut2 mutant · D771Y
Mutant Y771 — hydrogen bond to Y773 lost (3 contacts lost)
Fullscreen ↗

Bond changes · DynaMut2 interaction analysis

3 lost5 gained7 preserved
Interaction typeWild-type partnerMutant partnerStatus
Hydrogen bondI712Gained
Hydrogen bondN714Lost
Hydrogen bondK768K768Preserved
Hydrogen bondY773Y773Preserved
Polar contactN714Lost
Polar contactK768K768Preserved
Polar contactY773Y773Preserved
Aromatic / πY773Gained
Van der WaalsN714Gained
Van der WaalsK768K768Preserved
Van der WaalsY773Lost
HydrophobicI712I712Preserved
HydrophobicN714Gained
HydrophobicK768Gained
HydrophobicY773Y773Preserved

Lost / gained / preserved interatomic contacts at the variant residue, from the DynaMut2 (Arpeggio) interaction analysis of the wild-type and energy-minimized mutant structures.

Computational Predictions

DynaMut2 ΔΔG
0.18kcal/mol
Stabilising — mild
AlphaMissense
0.855
LPath
AlphaFold pLDDT
88
model confidence
Schema
Cat 3/4
Category 3/4 — Most Druggable

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditions(no specific conditions catalogued)
InheritanceNot specified.
Population frequency (gnomAD v4)Ultra-rare · AF 0.00066%
cDNA changec.2311G>T
ClinVar accessionVCV002430988
Last evaluated2023/09/11 00:00

Observed at very low frequency in gnomAD.

Structural Context

Position 771 same neighbors as D771H: ARG772 (2.4 Å — salt-bridge partner), PHE770 (2.5 Å), LYS768 (3.8 Å), ASP713 (3.8 Å — same D713 in the N714 polar network).

D771Y is the second pathogenic substitution at position 771 (with D771H). Where D771H reversed charge and added aromatic, D771Y eliminates charge entirely and adds aromatic volume. The R772 salt-bridge is broken; the F770 aromatic now has a tyrosine neighbor creating a tandem aromatic.

ΔΔG essentially neutral; AM 0.855 confirms severe consequence.

Amino-acid chemistry
Aspartate (D) → Tyrosine (Y) — small negatively-charged carboxylate replaced by large aromatic phenol. Charge loss + aromatic introduction.
Position in the protein
C-terminal lumenal domain · position 771 (pLDDT 88).

Druggability Assessment

Category 4 — Stable Fold, Function Disrupted. ΔΔG = +0.18. AlphaMissense 0.855 confirms severe consequence.

Mechanism: loss of D771-R772 salt bridge + tandem aromatic formation. Therapeutic: same D771 microregion as D771H, N714T/S/K.

Why this matters

D771Y + D771H = second multi-substitution position in the D713-N714-D771-K768 polar network. Five+ variants converge here.
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the D771Y PDF below and upload it to Wolfram Intelligence to generate therapeutic-strategy proposals — guanidinium mimetics, sigma-1 agonist docking, NAC thiol-capping. NAC is already on the bench-testing list.

Download D771Y PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin
Topological domain653869 · Lumenal