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K800E

Category 3/4 — Most DruggableConflictingLumenal · predictedσ-1 candidateEditorial
LysineGlutamate at position 800 · C-terminal lumenal domain (653-869) · WFS1 (Wolframin)

Lysine → Glutamate at position 800 in lumenal domain. ClinVar Conflicting. AlphaMissense 0.778, ΔΔG -0.40. pLDDT 72 borderline. Same K800-D801 salt-bridge pair as D801G.

Interactive 3D Structure

Wild-type reference
Wild-type K800 — ionic bond to E794
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DynaMut2 mutant · K800E
Mutant E800 — ionic bond to E794 lost (4 contacts lost)
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Bond changes · DynaMut2 interaction analysis

4 lost1 gained3 preserved
Interaction typeWild-type partnerMutant partnerStatus
Ionic bondE794Lost
Hydrogen bondE794Lost
Hydrogen bondD797D797Preserved
Polar contactW666Gained
Polar contactE794Lost
Polar contactD797D797Preserved
Polar contactV798V798Preserved
HydrophobicD797Lost

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
-0.40kcal/mol
Destabilising — mild
AlphaMissense
0.778
LPath
AlphaFold pLDDT
72
model confidence
Schema
Cat 3/4
Category 3/4 — Most Druggable

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditions(no specific conditions catalogued)
InheritanceNot specified.
Population frequency (gnomAD v4)Low frequency · AF 0.022%
cDNA changec.2398A>G
ClinVar accessionVCV000215400
Last evaluated2025/11/03 00:00

Observed in the general population.

Structural Context

Position 800 sits adjacent to D801. Neighbors: ASP801 (2.5 Å — D801G Atlas card!), THR799 (2.5 Å), ASP797 (3.7 Å), VAL798 (4.3 Å).

The wild-type K800-D801 salt bridge (referenced in D801G Atlas card) breaks when K800 becomes E800: now TWO adjacent glutamates (E800, D801) with no positive charge to stabilize. The local electrostatic environment is transformed. ΔΔG 0.40 + AM 0.778 confirm severe consequence.

Amino-acid chemistry
Lysine (K) → Glutamate (E) — positively-charged amine replaced by negatively-charged carboxylate. Charge reversal.
Position in the protein
C-terminal lumenal domain · position 800 (pLDDT 72).

Druggability Assessment

Category 3/4 — Most Druggable. |ΔΔG| = 0.40. AlphaMissense 0.778 confirms severe consequence.

Mechanism: K800-D801 salt bridge broken by charge-flip at K800. Therapeutic: same K800-D801 microregion as D801G.

Why this matters

K800E + D801G are sister variants at the salt-bridge pair. Two convergent variant targets at the same ionic contact.
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the K800E 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 K800E PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin
Topological domain653869 · Lumenal