C121Y (p.Cys121Tyr) variant of PROS1 (Vitamin K-dependent protein S)
C121Y (p.Cys121Tyr) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes published literature.
C121Y (p.Cys121Tyr) variant details
- p.Cys121Tyr
- UniProt VAR 046821
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein… (PMID 15238143)
- Cited in: Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III… (PMID 10447256)