P400A (p.Pro400Ala) variant of OPA1 (O60313)
P400A (p.Pro400Ala) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Optic atrophy. The record also includes published literature and structural context.
P400A (p.Pro400Ala) variant details
- p.Pro400Ala
- UniProt VAR 067355
- Pathogenic
- Optic atrophy
- Missense
- ClinVar: Pathogenic (Optic atrophy)
- EBI: Pathogenic (in OPA1)
- UniProt: Pathogenic (in OPA1)
- Structural context available
- Cited in: A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy. (PMID 22382025)
- Cited in: Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. (PMID 11017079)