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T699M

Category 3/4 — Most DruggableConflictingLumenal · predictedσ-1 candidateEditorial
ThreonineMethionine at position 699 · C-terminal lumenal domain (653-869) · WFS1 (Wolframin)

Threonine → Methionine at position 699 in lumenal domain. ClinVar Conflicting including monogenic hearing loss. AlphaMissense 0.603, ΔΔG +0.01 (neutral). Same position as T699P (Atlas card).

Interactive 3D Structure

Wild-type reference
Wild-type T699 — hydrogen bond to F825
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DynaMut2 mutant · T699M
Mutant M699 — energy-minimized; local contact network preserved
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Bond changes · DynaMut2 interaction analysis

0 lost0 gained2 preserved
Interaction typeWild-type partnerMutant partnerStatus
Hydrogen bondF825F825Preserved
Polar contactF825F825Preserved

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
0.01kcal/mol
Stabilising — mild
AlphaMissense
0.603
LPath
AlphaFold pLDDT
89
model confidence
Schema
Cat 3/4
Category 3/4 — Most Druggable

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditionsMonogenic hearing loss
InheritanceMonogenic hearing loss.
Population frequency (gnomAD v4)Ultra-rare · AF 0.00034%
cDNA changec.2096C>T
ClinVar accessionVCV000004522
Last evaluated2025/09/10 00:00

Observed at very low frequency in gnomAD.

Structural Context

Position 699 same neighbors as T699P: TRP700 (2.4 Å — Cat 2 outlier W700S region), VAL698 (2.5 Å), PHE825 (3.4 Å — W700-F825 π-stacking partner), SER826 (4.3 Å).

T699M is the second pathogenic substitution at 699 (with T699P). Where T699P introduced a backbone kink, T699M conservatively swaps small polar for small hydrophobic. Both perturb the W700-F825 π-stacking geometry that pulls W700S into Cat 2 destabilization.

ΔΔG neutral; AM 0.603 + monogenic hearing loss confirm severe consequence.

Amino-acid chemistry
Threonine (T) → Methionine (M) — small polar hydroxyl replaced by flexible sulfur-containing hydrophobic.
Position in the protein
C-terminal lumenal domain · position 699 (pLDDT 89). Same as T699P.

Druggability Assessment

Category 4 — Stable Fold, Function Disrupted. ΔΔG ≈ 0. AlphaMissense 0.603 confirms severe consequence.

Mechanism: W700-F825 π-stacking perturbation via T699 contact. Therapeutic: same W700-F825 microregion as T699P, W700C, W700S.

Why this matters

T699M + T699P + W700C + W700S — four Atlas variants converge on the W700-F825 π-stacking interface.
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the T699M 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 T699M PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin
Topological domain653869 · Lumenal
Natural variant699699 · in DFNA6; dbSNP:rs28937894