T490=
SynonymousSilentLikely benignTransmembrane · predictedSilent — Silent — no amino-acid change
Interactive 3D Structure
AlphaFold wild-type wolframin · the variant site near residue 490 (Lumenal loop 3) is highlighted.
Variant Assessment
Therapeutic Implication · Silent
Clinical Evidence
Not observed in ~730k individuals — consistent with a rare allele (ACMG PM2_supporting).
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Full Variant Card
T490= — WFS1 Molecular Atlas Card
Variant type: Synonymous (silent) Codon: position 490 (Threonine, T) — amino acid unchanged Domain context: Lumenal loop 3
Schema category: Silent — Silent — no amino-acid change
No amino-acid change (T490 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: Wolfram syndrome 1; Wolfram-like syndrome; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Cataract 41
- cDNA change: c.1470C>T
- ClinVar accession: VCV000178592
- Last evaluated: 2025/11/11 00:00
- Submissions: 1
Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:53:55.037855Z.
WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.