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A874T

Category 4 — Stable Fold, Function DisruptedConflictingLumenal · predictedσ-1 candidateEditorial
AlanineThreonine at position 874 · TM11 (870-890), helical transmembrane · WFS1 (Wolframin)

Alanine → Threonine at position 874 inside TM11. ClinVar Conflicting including Wolfram + Wolfram-like. AlphaMissense 0.33 (below threshold) — AM under-call. DynaMut2 ΔΔG -0.49 kcal/mol (destabilising).

Interactive 3D Structure

Wild-type reference
Wild-type A874 — hydrogen bond to A878
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DynaMut2 mutant · A874T
Mutant T874 — hydrogen bond to V871 lost (3 contacts lost)
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Bond changes · DynaMut2 interaction analysis

3 lost7 gained10 preserved
Interaction typeWild-type partnerMutant partnerStatus
Hydrogen bondF417Gained
Hydrogen bondT870T870Preserved
Hydrogen bondV871V871Preserved
Hydrogen bondF877F877Preserved
Hydrogen bondA878A878Preserved
Polar contactF417Gained
Polar contactP420Gained
Polar contactT870T870Preserved
Polar contactV871V871Preserved
Polar contactH872Lost
Polar contactF877F877Preserved
Polar contactA878A878Preserved
Van der WaalsP420Gained
Van der WaalsV871V871Preserved
Van der WaalsH872Lost
Van der WaalsK876Gained
HydrophobicF417Gained
HydrophobicP420Lost
HydrophobicI421I421Preserved
HydrophobicV871Gained

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
-0.49kcal/mol
Destabilising — mild
AlphaMissense
0.325
LBen
AlphaFold pLDDT
84
model confidence
Schema
Cat 4
Category 4 — Stable Fold, Function Disrupted

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditionsWolfram syndrome 1; Wolfram-like syndrome
InheritanceAD and AR.
Population frequency (gnomAD v4)Low frequency · AF 0.010%
cDNA changec.2620G>A
ClinVar accessionVCV000283864
Last evaluated2025/11/01 00:00

Observed in the general population.

Structural Context

Position 874 sits in TM11 near its start. Neighbors: GLY873 (2.5 Å), VAL875 (2.5 Å — partner of V875M), VAL871 (3.6 Å — partner of V871G and V871M!). The local environment is densely populated by Atlas variant positions: V871G/V871M, V875M, K876T, and now A874T.

Replacing A874 with threonine introduces polarity into the bilayer-embedded TM11 environment. The hydroxyl is energetically unfavorable in the lipid context and pulls the local geometry toward the membrane-water interface.

|ΔΔG| 0.49 + AM 0.33 under-call + Wolfram + Wolfram-like confirm pathogenicity.

Amino-acid chemistry
Alanine (A) → Threonine (T) — small methyl-bearing hydrophobic replaced by small polar hydroxyl. Polarity introduced into bilayer-embedded position.
Position in the protein
TM11 (residues 870–890) · position 874 near TM11 start (pLDDT 84).

Druggability Assessment

Category 3/4 — Most Druggable (AM under-call). |ΔΔG| = 0.49. AlphaMissense 0.33 below threshold but multi-phenotype confirms pathogenicity.

Mechanism: polarity introduction into TM11 bilayer-embedded position. Therapeutic strategy: TM11 multi-variant cluster (V871G/M, V875M, K876T, A874T).

Why this matters

A874T extends the TM11 multi-variant cluster — six variants now (V871G, V871M, A874T, V875M, K876T, P885L) converge on this final transmembrane helix.
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the A874T 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 A874T PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin
Transmembrane870890 · Helical