L949P (p.Leu949Pro) variant of OPA1 (O60313)
L949P (p.Leu949Pro) in OPA1 (O60313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant optic atrophy classic form; not provided. The record also includes published literature and structural context.
L949P (p.Leu949Pro) variant details
- p.Leu949Pro
- UniProt VAR 060869
- Likely pathogenic
- Autosomal dominant optic atrophy classic form; not provided
- Missense
- ClinVar: Likely pathogenic (Autosomal dominant optic atrophy classic form; not provided)
- 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: Novel mutations of the OPA1 gene in Chinese dominant optic atrophy. (PMID 19969356)