C19R (p.Cys19Arg) variant of ASS1 (Argininosuccinate synthase)
C19R (p.Cys19Arg) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CTLN1. The record also includes published literature and structural context.
C19R (p.Cys19Arg) variant details
- p.Cys19Arg
- UniProt VAR 015891
- Pathogenic
- in CTLN1
- Missense
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Structural context available
- Cited in: Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38… (PMID 12815590)
- Cited in: Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (PMID 11708871)