DynaMut2 Result · RareResearch.AI Molecular Atlas

WFS1 A716T — Predicted Stability Change

Computed on AlphaFold AF-O76024-F1 v6 · Job ID 177985952865 · Biosig Lab, University of Queensland / Melbourne
ΔΔG (Stability Change)
-0.8kcal/mol
Destabilising

Mutation Details

Chain
A
Position
716
Wild-type
A (Alanine)
Mutant
T (Threonine)
Region
C-terminal lumenal domain (653-869)

Mechanistic Interpretation

Adding a polar hydroxyl group where a hydrophobic methyl sat. Small chemical change with mild local destabilization — but the variant produces autosomal dominant DFNA6 hearing loss, suggesting a dominant-negative mechanism not captured by monomer ΔΔG.