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E385K

Category 3/4 — Most DruggableConflictingTransmembrane · predictedEditorial
GlutamateLysine at position 385 · Connecting loop · WFS1 (Wolframin)

Glutamate → Lysine at position 385 in a connecting loop. ClinVar Conflicting including WFS1-Related Spectrum Disorders, monogenic diabetes. AlphaMissense 0.851, ΔΔG -0.16.

Interactive 3D Structure

Wild-type reference
Wild-type E385 — ionic bond to K178
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DynaMut2 mutant · E385K
Mutant K385 — ionic bond to K178 lost (4 contacts lost)
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Bond changes · DynaMut2 interaction analysis

4 lost3 gained9 preserved
Interaction typeWild-type partnerMutant partnerStatus
Ionic bondK178Lost
Hydrogen bondK178Lost
Hydrogen bondL381L381Preserved
Hydrogen bondL382L382Preserved
Hydrogen bondL388L388Preserved
Polar contactK178Lost
Polar contactL381L381Preserved
Polar contactL382Gained
Polar contactN387N387Preserved
Polar contactL388L388Preserved
CarbonylL382L382Preserved
Van der WaalsK178Lost
HydrophobicA175A175Preserved
HydrophobicK178Gained
HydrophobicA179A179Preserved
HydrophobicN387Gained

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
-0.16kcal/mol
Destabilising — mild
AlphaMissense
0.851
LPath
AlphaFold pLDDT
85
model confidence
Schema
Cat 3/4
Category 3/4 — Most Druggable

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditionsWFS1-Related Spectrum Disorders; Monogenic diabetes
InheritanceMulti-phenotype.
Population frequency (gnomAD v4)Low frequency · AF 0.073%
cDNA changec.1153G>A
ClinVar accessionVCV000178590
Last evaluated2026/03/30 00:00

Observed in the general population.

Structural Context

Position 385 sits in a connecting loop. Neighbors: PHE384 (2.5 Å), PRO386 (2.5 Å), LEU381 (3.8 Å), LEU382 (4.2 Å — partner of L382P!). Adjacent to L382P region.

E385K charge-flips at this position. The variant lysine likely engages different partners than the wild-type glutamate. Combined with L382P, multiple Atlas variants converge on the 381-386 loop. ΔΔG mild; AM 0.851 + multi-phenotype confirm severe consequence.

Amino-acid chemistry
Glutamate (E) → Lysine (K) — charge reversal.
Position in the protein
Connecting loop · position 385 (pLDDT 85).

Druggability Assessment

Category 3/4 — Most Druggable. |ΔΔG| = 0.16. AlphaMissense 0.851 + multi-phenotype confirm severe consequence.

Mechanism: charge-flip in the L382-E385 loop. Therapeutic: same loop region as L382P.

Why this matters

E385K + L382P converge on the 381-386 loop — multi-variant target.
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the E385K 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 E385K PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin