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D866N

Category 4 — Stable Fold, Function DisruptedConflictingLumenal · predictedσ-1 candidateEditorial
AspartateAsparagine at position 866 · C-terminal lumenal domain (653-869) · WFS1 (Wolframin)

Aspartate → Asparagine at position 866. ClinVar Conflicting including monogenic diabetes + Wolfram. AlphaMissense 0.18 (below threshold) — AM under-call. DynaMut2 ΔΔG -0.59.

Interactive 3D Structure

Wild-type reference
Wild-type D866 — ionic bond to K862
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DynaMut2 mutant · D866N
Mutant N866 — ionic bond to K862 lost (4 contacts lost)
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Bond changes · DynaMut2 interaction analysis

4 lost1 gained7 preserved
Interaction typeWild-type partnerMutant partnerStatus
Ionic bondK862Lost
Hydrogen bondK862Lost
Hydrogen bondE864Lost
Hydrogen bondS869S869Preserved
Hydrogen bondT870T870Preserved
Polar contactK862K862Preserved
Polar contactE864E864Preserved
Polar contactR868Lost
Polar contactS869S869Preserved
Polar contactT870T870Preserved
Van der WaalsR868R868Preserved
Van der WaalsT870Gained

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
-0.59kcal/mol
Destabilising — mild
AlphaMissense
0.176
LBen
AlphaFold pLDDT
64
model confidence
Schema
Cat 4
Category 4 — Stable Fold, Function Disrupted

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditionsMonogenic diabetes; Wolfram syndrome 1
InheritanceMonogenic diabetes + Wolfram.
Population frequency (gnomAD v4)Low frequency · AF 0.084%
cDNA changec.2596G>A
ClinVar accessionVCV000178655
Last evaluated2026/01/28 00:00

Observed in the general population.

Structural Context

Position 866 in C-terminal cluster. Neighbors: TRP867 (2.5 Å), HIS865 (2.5 Å — partner of E864K via H865), ARG868 (4.3 Å — R868H!). The 864-868 cluster has E864K, H865 (E864K's neighbor), D866N (this card), R868H — four variants/positions in five residues.

D866N charge loss in dense multi-variant cluster. AM 0.18 under-call; multi-phenotype confirms.

Amino-acid chemistry
Aspartate (D) → Asparagine (N) — charge loss; H-bonding preserved.
Position in the protein
C-terminal lumenal domain · position 866 (pLDDT 64 borderline).

Druggability Assessment

Category 3/4 — Most Druggable (AM under-call). |ΔΔG| 0.59. AlphaMissense 0.18 below threshold but multi-phenotype confirms.

Mechanism: charge loss in dense 864-868 cluster. Therapeutic: same C-terminal cluster.

Why this matters

D866N extends the 864-868 multi-variant cluster — 5+ Atlas variants now in this 5-residue stretch.
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the D866N 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 D866N PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin
Topological domain653869 · Lumenal