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W399G

Category 3/4 — Most DruggableConflictingTransmembrane · predictedEditorial
TryptophanGlycine at position 399 · Connecting loop · WFS1 (Wolframin)

Tryptophan → Glycine at position 399 in a connecting loop. ClinVar Conflicting including Cataract 41 + DFNA6. AlphaMissense 0.713, ΔΔG -1.06. Bulky aromatic → smallest amino acid.

Interactive 3D Structure

Wild-type reference
Wild-type W399 — hydrogen bond to V395
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DynaMut2 mutant · W399G
Mutant G399 — hydrophobic contact to L402 lost
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Bond changes · DynaMut2 interaction analysis

1 lost1 gained7 preserved
Interaction typeWild-type partnerMutant partnerStatus
Hydrogen bondV395V395Preserved
Hydrogen bondL402L402Preserved
Polar contactV395V395Preserved
Polar contactN396N396Preserved
Polar contactF397F397Preserved
Polar contactH401H401Preserved
Polar contactL402L402Preserved
Van der WaalsH401Gained
HydrophobicL402Lost

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
-1.06kcal/mol
Destabilising — moderate
AlphaMissense
0.713
LPath
AlphaFold pLDDT
76
model confidence
Schema
Cat 3/4
Category 3/4 — Most Druggable

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditionsCataract 41; Autosomal dominant nonsyndromic hearing loss 6 (DFNA6)
InheritanceAD: DFNA6 + Cataract 41.
Population frequency (gnomAD v4)Ultra-rare · AF 0.0023%
cDNA changec.1195T>G
ClinVar accessionVCV000215386
Last evaluated2026/01/04 00:00

Observed at very low frequency in gnomAD.

Structural Context

Position 399 in connecting loop. Neighbors: ASN400 (2.5 Å), GLY398 (2.5 Å — adjacent existing glycine!), ASN396 (3.9 Å), VAL395 (4.0 Å — near E394V).

Replacing W399 with glycine creates G398-G399 double-glycine motif (extra backbone flexibility) and removes the aromatic side chain entirely. Two adjacent glycines in a loop produce unusual conformational freedom. ΔΔG 1.06 reflects this. AM 0.713 + Cataract 41 + DFNA6 confirm severe consequence.

Amino-acid chemistry
Tryptophan (W) → Glycine (G) — bulky aromatic indole replaced by smallest amino acid. Massive volume loss.
Position in the protein
Connecting loop · position 399 (pLDDT 76).

Druggability Assessment

Category 3/4 — Most Druggable. |ΔΔG| = 1.06. AlphaMissense 0.713 + dual phenotypes confirm severe consequence.

Mechanism: massive volume loss + creation of G398-G399 double-glycine motif. Therapeutic: loop region site-directed.

Why this matters

W399G is in the same 392-399 loop region as E394V — multi-variant target cluster.
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the W399G 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 W399G PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin