G52D (p.Gly52Asp) variant of PROS1 (Vitamin K-dependent protein S)
G52D (p.Gly52Asp) 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.
G52D (p.Gly52Asp) variant details
- p.Gly52Asp
- Ensembl rs1709034447
- UniProt VAR 046807
- Pathogenic
- in THPH5
- Missense
- EBI: Pathogenic (in THPH5)
- UniProt: Pathogenic (in THPH5)
- Cited in: Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S… (PMID 12351389)
- 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)