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E737K

Category 4 — Stable Fold, Function DisruptedConflictingLumenal · predictedσ-1 candidateEditorial
GlutamateLysine at position 737 · C-terminal lumenal domain (653-869) · WFS1 (Wolframin)

Glutamate → Lysine at position 737 in lumenal domain. ClinVar Conflicting including WFS1 spectrum. AlphaMissense 0.18 (below threshold) — AM under-call. DynaMut2 ΔΔG +0.10 (neutral). Same E737 contacted by G736R, G736S, C765R.

Interactive 3D Structure

Wild-type reference
Wild-type E737 — ionic bond to H766
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DynaMut2 mutant · E737K
Mutant K737 — ionic bond to H766 lost (5 contacts lost)
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Bond changes · DynaMut2 interaction analysis

5 lost0 gained2 preserved
Interaction typeWild-type partnerMutant partnerStatus
Ionic bondH766Lost
Hydrogen bondH766H766Preserved
Hydrogen bondK769Lost
Polar contactC765Lost
Polar contactH766H766Preserved
CarbonylC765Lost
Van der WaalsC765Lost

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
0.10kcal/mol
Stabilising — mild
AlphaMissense
0.176
LBen
AlphaFold pLDDT
88
model confidence
Schema
Cat 4
Category 4 — Stable Fold, Function Disrupted

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditionsWFS1-Related Spectrum Disorders
InheritanceWFS1 spectrum.
Population frequency (gnomAD v4)Low frequency · AF 0.093%
cDNA changec.2209G>A
ClinVar accessionVCV000143132
Last evaluated2026/01/27 00:00

Observed in the general population.

Structural Context

Position 737 — the E737 hub residue itself. Neighbors: ALA738 (2.4 Å), GLY736 (2.5 Å — G736R/G736S!), HIS766 (3.8 Å — same H766 as C765R neighbor).

E737K is the variant AT the hub position that G736R, G736S, and C765R all contact. Charge-flip disrupts the entire microregion's electrostatic geometry. Three convergent Atlas variants point at E737 from their neighbor analyses; now we have the variant at the hub itself.

AM 0.18 under-call; WFS1 spectrum confirms.

Amino-acid chemistry
Glutamate (E) → Lysine (K) — charge reversal.
Position in the protein
C-terminal lumenal domain · position 737 (pLDDT 88).

Druggability Assessment

Category 3/4 — Most Druggable (AM under-call, HUB residue). ΔΔG ≈ 0. AlphaMissense 0.18 below threshold but multi-phenotype confirms pathogenicity.

Mechanism: charge-flip at E737 hub. Therapeutic: this is the second hub residue in the Atlas (with E431). Drug discovery targets E737 microregion.

Why this matters

E737K identifies E737 as a second multi-variant hub residue (G736R, G736S, C765R, E737K all converge here).
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the E737K 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 E737K PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin
Topological domain653869 · Lumenal
Natural variant737737 · in dbSNP:rs147834269