D273A (p.Asp273Ala) variant of OPA1 (O60313)
D273A (p.Asp273Ala) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Optic atrophy. The record also includes published literature and structural context.
D273A (p.Asp273Ala) variant details
- p.Asp273Ala
- UniProt VAR 060831
- Likely pathogenic
- Optic atrophy
- Missense
- ClinVar: Likely pathogenic (Optic atrophy)
- EBI: Pathogenic (in OPA1)
- UniProt: Pathogenic (in OPA1)
- Structural context available
- Cited in: OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. (PMID 11440988)
- Cited in: Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. (PMID 11017079)