S49P (p.Ser49Pro) variant of F9 (Coagulation factor IX)
S49P (p.Ser49Pro) in F9 (Coagulation factor IX) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HEMB. The record also includes published literature and structural context.
S49P (p.Ser49Pro) variant details
- p.Ser49Pro
- UniProt VAR 006531
- Pathogenic
- in HEMB
- Missense
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)
- Cited in: Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene. (PMID 10698280)