R111S (p.Arg111Ser) variant of PROS1 (Vitamin K-dependent protein S)
R111S (p.Arg111Ser) 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.
R111S (p.Arg111Ser) variant details
- p.Arg111Ser
- UniProt VAR 046820
- Pathogenic
- in THPH5
- Missense
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa… (PMID 8765219)
- 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)