A68D (p.Ala68Asp) variant of PROS1 (Vitamin K-dependent protein S)
A68D (p.Ala68Asp) 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.
A68D (p.Ala68Asp) variant details
- p.Ala68Asp
- UniProt VAR 046809
- Pathogenic
- in THPH5
- Missense
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and… (PMID 9241758)
- 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)