Y359D (p.Tyr359Asp) variant of ASS1 (Argininosuccinate synthase)
Y359D (p.Tyr359Asp) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Citrullinemia. The record also includes published literature and structural context.
Y359D (p.Tyr359Asp) variant details
- p.Tyr359Asp
- rs1262020902
- ClinGen CA375232195
- ClinVar RCV002233206
- TOPMed rs1262020902
- Pathogenic
- Citrullinemia
- Missense
- ClinVar: Pathogenic (Citrullinemia)
- EBI: Pathogenic (in CTLN1)
- UniProt: Pathogenic (in CTLN1)
- Structural context available
- Cited in: Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. (PMID 19006241)
- Cited in: Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural… (PMID 28111830)