S511N (p.Ser511Asn) variant of POLG (DNA polymerase subunit gamma-1)
S511N (p.Ser511Asn) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal. The record also includes published literature and structural context.
S511N (p.Ser511Asn) variant details
- p.Ser511Asn
- rs121918055
- ClinGen CA256901
- ClinVar RCV000014468
- UniProt VAR 058878
- Pathogenic
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal
- Missense
- ClinVar: Pathogenic (Progressive external ophthalmoplegia with mitochondrial DNA dele)
- EBI: Pathogenic (in PEOA1)
- UniProt: Pathogenic (in PEOA1)
- Structural context available
- Cited in: Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external… (PMID 17420318)
- Cited in: Single Large-Scale Mitochondrial DNA Deletion Syndromes. (PMID 20301382)