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G831D

Category 3/4 — Most DruggableConflictingLumenal · predictedσ-1 candidateEditorial
GlycineAspartate at position 831 · C-terminal lumenal domain (653-869) · WFS1 (Wolframin)

Glycine → Aspartate at position 831 in wolframin's C-terminal lumenal domain. ClinVar Conflicting. AlphaMissense 0.923, ΔΔG -0.85. Glycine-removal with charge introduction.

Interactive 3D Structure

Wild-type reference
Wild-type G831 — hydrogen bond to L833
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DynaMut2 mutant · G831D
Mutant D831 — energy-minimized; local contact network preserved
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Bond changes · DynaMut2 interaction analysis

0 lost0 gained3 preserved
Interaction typeWild-type partnerMutant partnerStatus
Hydrogen bondL833L833Preserved
Polar contactL833L833Preserved
Van der WaalsL833L833Preserved

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
-0.85kcal/mol
Destabilising — mild
AlphaMissense
0.923
LPath
AlphaFold pLDDT
78
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 0.00062%
cDNA changec.2492G>A
ClinVar accessionVCV000004523
Last evaluated2026/02/04 00:00

Observed at very low frequency in gnomAD.

Structural Context

Position 831 sits in the lumenal domain. Neighbors: ARG832 (2.5 Å — likely salt-bridge partner with new D831!), GLU830 (2.5 Å — adjacent existing carboxylate), LEU833 (4.7 Å), GLU694 (4.8 Å — long-range).

Replacing G831 with aspartate creates a charge cluster: the new D831 carboxylate plus the existing E830, with R832 nearby as potential bridge. The local backbone flexibility is lost; the local electrostatic environment is transformed.

The |ΔΔG| of 0.85 reflects substantial fold cost. AlphaMissense 0.923 confirms severe consequence.

Amino-acid chemistry
Glycine (G) → Aspartate (D) — smallest amino acid replaced by negatively-charged carboxylate. Loss of backbone flexibility plus charge introduction.
Position in the protein
C-terminal lumenal domain · position 831 (pLDDT 78).

Druggability Assessment

Category 3/4 — Most Druggable. |ΔΔG| = 0.85 — fold survives. AlphaMissense 0.923 confirms severe consequence.

Mechanism: glycine-removal plus charge introduction at the R832-E830 electrostatic environment. Therapeutic: site-directed at the 830-832 microregion.

Why this matters

G831D continues the glycine-removal class — universally pathogenic across the Atlas.
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the G831D 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 G831D PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin
Topological domain653869 · Lumenal
Natural variant831831 · in DFNA6; dbSNP:rs28937895