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R383=

SynonymousSilentConflictingTransmembrane · predicted
Synonymous variant · codon at position 383 · Transmembrane helix 3 · WFS1 (Wolframin)

Silent — Silent — no amino-acid change

Interactive 3D Structure

Interactive structure
rotate · zoom · variant + 5 Å neighbors
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AlphaFold wild-type wolframin · the variant site near residue 383 (Transmembrane helix 3) is highlighted.

Variant Assessment

Variant type
Synonymous
Schema
Silent
Silent — no amino-acid change
Domain
Transmembrane helix 3
Status
—

Therapeutic Implication · Silent

No amino-acid change (R383 is unchanged): the codon is altered but the protein sequence is identical to wild-type. No structural, stability or AlphaMissense effect applies. Synonymous variants are typically benign unless they affect splicing or regulatory elements; this one is not adjacent to an exon boundary.

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditionsWolfram syndrome 1
Population frequency (gnomAD v4)Absent from gnomAD v4
cDNA changec.1149C>T
Protein consequenceR383=
ClinVar variantNM_006005.3(WFS1):c.1149C>T (p.Arg383=)
ClinVar accessionVCV000594843
Last evaluated2017/11/15 00:00

Not observed in ~730k individuals — consistent with a rare allele (ACMG PM2_supporting).

Therapeutic Strategy Handoff · prediction

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Full Variant Card

R383= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 383 (Arginine, R) — amino acid unchanged Domain context: Transmembrane helix 3

Schema category: Silent — Silent — no amino-acid change

No amino-acid change (R383 is unchanged): the codon is altered but the protein sequence is identical to wild-type. No structural, stability or AlphaMissense effect applies. Synonymous variants are typically benign unless they affect splicing or regulatory elements; this one is not adjacent to an exon boundary.

Clinical evidence

  • Classification: Conflicting classifications of pathogenicity
  • Review status: criteria provided, conflicting classifications
  • Associated conditions: Wolfram syndrome 1
  • cDNA change: c.1149C>T
  • ClinVar accession: VCV000594843
  • Last evaluated: 2017/11/15 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:52:46.655896Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.