R226G (p.Arg226Gly) variant of F9 (Coagulation factor IX)
R226G (p.Arg226Gly) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary factor IX deficiency disease. The record also includes published literature and structural context.
R226G (p.Arg226Gly) variant details
- p.Arg226Gly
- UniProt VAR 006571
- Pathogenic
- not provided; Hereditary factor IX deficiency disease
- Missense
- ClinVar: Pathogenic (not provided; Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point… (PMID 12588353)
- Cited in: Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and… (PMID 8076946)