R363L (p.Arg363Leu) variant of ASS1 (Argininosuccinate synthase)
R363L (p.Arg363Leu) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Citrullinemia type I. The record also includes published literature and structural context.
R363L (p.Arg363Leu) variant details
- p.Arg363Leu
- ExAC rs771937610
- TOPMed rs771937610
- gnomAD rs771937610
- UniProt VAR 000692
- Likely pathogenic
- Citrullinemia type I
- Missense
- ClinVar: Likely pathogenic (Citrullinemia type I)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Structural context available
- Cited in: Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. (PMID 7977368)
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)