RareResearch.AI
← Back to atlas

A134=

SynonymousSilentLikely benignCytoplasmic · predicted
Synonymous variant · codon at position 134 · N-terminal cytoplasmic (intrinsically disordered) · WFS1 (Wolframin)

Silent — Silent — no amino-acid change

Interactive 3D Structure

Interactive structure
rotate · zoom · variant + 5 Å neighbors
Fullscreen ↗

AlphaFold wild-type wolframin · the variant site near residue 134 (N-terminal cytoplasmic (intrinsically disordered)) is highlighted.

Variant Assessment

Variant type
Synonymous
Schema
Silent
Silent — no amino-acid change
Domain
N-terminal cytoplasmic (intrinsically disordered)
Status
—

Therapeutic Implication · Silent

No amino-acid change (A134 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 classificationBenign/Likely benign
Review statuscriteria provided, multiple submitters, no conflicts
Associated conditionsWFS1-Related Spectrum Disorders; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6
Population frequency (gnomAD v4)Low frequency · AF 0.047%
cDNA changec.402G>A
Protein consequenceA134=
ClinVar variantNM_006005.3(WFS1):c.402G>A (p.Ala134=)
ClinVar accessionVCV000045458
Last evaluated2025/12/15 00:00

Observed in the general population.

Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the A134= card below and upload it to Wolfram Intelligence to generate therapeutic-strategy proposals matched to this Silent synonymous variant and its domain context.

Download A134= PDF card ↓or markdown ↓

Full Variant Card

A134= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 134 (Alanine, A) — amino acid unchanged Domain context: N-terminal cytoplasmic (intrinsically disordered)

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

No amino-acid change (A134 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: Benign/Likely benign
  • Review status: criteria provided, multiple submitters, no conflicts
  • Associated conditions: WFS1-Related Spectrum Disorders; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6
  • cDNA change: c.402G>A
  • ClinVar accession: VCV000045458
  • Last evaluated: 2025/12/15 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:51:03.665836Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.