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A684G

Category 3/4 — Most DruggableConflictingLumenal · predictedσ-1 candidateEditorial
AlanineGlycine at position 684 · C-terminal lumenal domain (653-869) · WFS1 (Wolframin)

Alanine → Glycine at position 684 in lumenal domain. ClinVar Conflicting including type 2 diabetes. AlphaMissense 0.808, ΔΔG -0.38. THIRD substitution at position 684 (with A684T, A684V).

Interactive 3D Structure

Wild-type reference
Wild-type A684 — hydrogen bond to I688
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DynaMut2 mutant · A684G
Mutant G684 — van der waals contact to I688 lost
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Bond changes · DynaMut2 interaction analysis

0 lost0 gained7 preserved
Interaction typeWild-type partnerMutant partnerStatus
Hydrogen bondQ687Q687Preserved
Hydrogen bondI688I688Preserved
Polar contactN682N682Preserved
Polar contactQ687Q687Preserved
Polar contactI688I688Preserved
Van der WaalsN682N682Preserved
Van der WaalsI688I688Preserved

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
-0.38kcal/mol
Destabilising — mild
AlphaMissense
0.808
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 conditionsType 2 diabetes mellitus
InheritanceType 2 diabetes documented.
Population frequency (gnomAD v4)Ultra-rare · AF 0.0015%
cDNA changec.2051C>G
ClinVar accessionVCV000930623
Last evaluated2023/12/18 00:00

Observed at very low frequency in gnomAD.

Structural Context

Position 684 same neighbors as A684T/V: MET683 (2.5 Å), ARG685 (2.5 Å — R685P), GLN687 (4.0 Å — Q687H), ASN682 (4.0 Å), THR686 (4.4 Å).

A684G is the third substitution at position 684 — eliminating side chain entirely, introducing glycine backbone flexibility. The variant fold may shift more substantially than A684T's hydroxyl-introduction or A684V's volume-increase because of the backbone freedom.

ΔΔG 0.38 + AM 0.808 + T2D confirm severe consequence.

Amino-acid chemistry
Alanine (A) → Glycine (G) — small methyl-bearing residue replaced by smallest amino acid. Loss of side chain entirely.
Position in the protein
C-terminal lumenal domain · position 684 (pLDDT 88). Same as A684T, A684V.

Druggability Assessment

Category 3/4 — Most Druggable. |ΔΔG| = 0.38. AlphaMissense 0.808 + T2D confirm severe consequence.

Mechanism: backbone-flexibility introduction in the R685 microregion. Therapeutic: same A684 cluster.

Why this matters

A684G is the FOURTH variant at position 684 (with A684T, A684V, and adjacent R685P, Q687H, I688F). The 684-688 cluster is one of the densest Atlas hubs.
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the A684G 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 A684G PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin
Topological domain653869 · Lumenal
Natural variant684684 · in WFSL; greatly reduces protein expression compared to wild-type; dbSNP:rs387906930