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D367Y

Category 3/4 — Most DruggableConflictingTransmembrane · predictedEditorial
AspartateTyrosine at position 367 · Connecting loop · WFS1 (Wolframin)

Aspartate → Tyrosine at position 367 in a connecting loop. ClinVar Conflicting including Wolfram syndrome 1. AlphaMissense 0.685, ΔΔG +0.53 STABILISING.

Interactive 3D Structure

Wild-type reference
Wild-type D367 — ionic bond to H401
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DynaMut2 mutant · D367Y
Mutant Y367 — ionic bond to H401 lost (4 contacts lost)
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Bond changes · DynaMut2 interaction analysis

4 lost11 gained8 preserved
Interaction typeWild-type partnerMutant partnerStatus
Ionic bondH401Lost
Hydrogen bondK363K363Preserved
Hydrogen bondV364Lost
Hydrogen bondA370A370Preserved
Hydrogen bondW371W371Preserved
Hydrogen bondP404Lost
Polar contactK363K363Preserved
Polar contactV364V364Preserved
Polar contactA370A370Preserved
Polar contactW371W371Preserved
Polar contactH401Gained
Aromatic / πF264Gained
Aromatic / πH401Gained
CarbonylA370A370Preserved
Van der WaalsK363Lost
Van der WaalsK369Gained
Van der WaalsH401Gained
HydrophobicI259Gained
HydrophobicF264Gained
HydrophobicK363Gained
HydrophobicA370Gained
HydrophobicH401Gained
HydrophobicP404Gained

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
0.53kcal/mol
Stabilising — mild
AlphaMissense
0.685
LPath
AlphaFold pLDDT
80
model confidence
Schema
Cat 3/4
Category 3/4 — Most Druggable

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditionsWolfram syndrome 1
InheritanceWolfram syndrome 1.
Population frequency (gnomAD v4)Ultra-rare · AF 0.0020%
cDNA changec.1099G>T
ClinVar accessionVCV001810357
Last evaluated2023/02/13 00:00

Observed at very low frequency in gnomAD.

Structural Context

Position 367 in connecting loop. Neighbors: GLN366 (2.5 Å), SER368 (2.5 Å), VAL364 (3.7 Å — near K363T), LYS363 (3.8 Å — partner of K363T!). The K363 contact is structurally significant: D367 wild-type likely salt-bridges with K363.

Replacing D367 with tyrosine eliminates the salt-bridge potential. The variant fold stabilises (+0.53) because the aromatic ring packs into the local environment. AM 0.685 + Wolfram 1 confirm severe consequence. Mechanism is loss of D367-K363 salt bridge.

Amino-acid chemistry
Aspartate (D) → Tyrosine (Y) — small negatively-charged carboxylate replaced by large aromatic phenol. Charge loss + aromatic introduction.
Position in the protein
Connecting loop · position 367 (pLDDT 80).

Druggability Assessment

Category 4 — Stable Fold, Function Disrupted. ΔΔG = +0.53 stabilising. AlphaMissense 0.685 + Wolfram 1 confirm severe consequence.

Mechanism: loss of D367-K363 salt bridge. Therapeutic: same K363 microregion as K363T.

Why this matters

D367Y + K363T are sister variants at the K363-D367 salt-bridge pair.
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the D367Y 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 D367Y PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin