F72C (p.Phe72Cys) variant of PROS1 (Vitamin K-dependent protein S)
F72C (p.Phe72Cys) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in THPH5. The record also includes published literature.
F72C (p.Phe72Cys) variant details
- p.Phe72Cys
- UniProt VAR 046810
- Pathogenic
- in THPH5
- Missense
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S… (PMID 7803790)
- 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)