L244P (p.Leu244Pro) variant of POLG (DNA polymerase subunit gamma-1)
L244P (p.Leu244Pro) 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 sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome. The record also includes published literature and structural context.
L244P (p.Leu244Pro) variant details
- p.Leu244Pro
- UniProt VAR 058872
- Pathogenic
- Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome
- Missense
- ClinVar: Pathogenic (Progressive sclerosing poliodystrophy; Mitochondrial DNA depleti)
- EBI: Pathogenic (in MTDPS4A)
- UniProt: Pathogenic (in MTDPS4A)
- Structural context available
- Cited in: Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. (PMID 15689359)
- Cited in: POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. (PMID 15122711)