R383C
AlphaMissense: likely benign (0.13)Uncertain significanceTransmembrane · predictedInteractive 3D Structure
Computational Predictions
AlphaMissense + AlphaFold card. This variant is mapped from AlphaMissense pathogenicity and AlphaFold confidence. The DynaMut2 ΔΔG stability prediction and the wild-type/mutant structural comparison (dual-pane + bond network) are computed per-variant and backfill here — they require a DynaMut2 submission, unlike the precomputed AlphaMissense score.
Clinical Evidence
Observed at very low frequency in gnomAD.
Full Variant Card
R383C — WFS1 Molecular Atlas Card
Variant type: Missense Substitution: Arginine (R) → Cysteine (C) at position 383 Domain context: Transmembrane helix 3
AlphaMissense
- Pathogenicity score: 0.1309
- Class: likely benign
AlphaFold confidence
- pLDDT at residue 383: 82.88
DynaMut2 ΔΔG: not yet computed for this variant — AlphaMissense + AlphaFold confidence shown above. Stability ΔΔG and the wild-type/mutant structural comparison backfill behind this note.
Clinical evidence
- Classification: Uncertain significance
- Review status: criteria provided, multiple submitters, no conflicts
- Associated conditions: Autosomal dominant nonsyndromic hearing loss 6; WFS1-Related Spectrum Disorders; Cataract 41; Wolfram syndrome 1; Type 2 diabetes mellitus; Wolfram-like syndrome
- cDNA change: c.1147C>T
- ClinVar accession: VCV000904089
- Last evaluated: 2026/01/21 00:00
- Submissions: 1
Card generated by wolfram-atlas-batch (missense AlphaMissense mint) on 2026-06-08T02:27:33.496456Z.
AlphaMissense (Cheng et al. 2023) · AlphaFold model v6 · UniProt O76024.
Feed this card to Wolfram Intelligence
Download the R383C 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.