G768D (p.Gly768Asp) variant of OPA1 (O60313)
G768D (p.Gly768Asp) 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.
G768D (p.Gly768Asp) variant details
- p.Gly768Asp
- UniProt VAR 060860
- Likely pathogenic
- Optic atrophy
- Missense
- ClinVar: Likely pathogenic (Optic atrophy)
- EBI: Pathogenic (in OPA1)
- UniProt: Pathogenic (in OPA1)
- Structural context available
- Cited in: Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. (PMID 19319978)
- Cited in: Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. (PMID 11017079)