G459E (p.Gly459Glu) variant of OPA1 (O60313)
G459E (p.Gly459Glu) 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.
G459E (p.Gly459Glu) variant details
- p.Gly459Glu
- UniProt VAR 072129
- Likely pathogenic
- Optic atrophy
- Missense
- ClinVar: Likely pathogenic (Optic atrophy)
- EBI: Pathogenic (in OPA1)
- UniProt: Pathogenic (in OPA1)
- Structural context available
- Cited in: Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%. (PMID 22857269)
- Cited in: Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. (PMID 11017079)