E53A (p.Glu53Ala) variant of F9 (Coagulation factor IX)
E53A (p.Glu53Ala) 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.
E53A (p.Glu53Ala) variant details
- p.Glu53Ala
- UniProt VAR 006532
- Pathogenic
- in HEMB
- Missense
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. (PMID 7937052)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)