Defective F9 variant does not activate FX

Stable Identifier
Homo sapiens
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Factor IX (FIX) deficiency is associated with mild to severe bleeding in hemophilia B (HB) patients (Rallapalli PM et al. 2013). HB is caused by a wide range of mutations that can include point mutations (nonsense and missense), insertions, deletions and other complex rearrangements of the F9 gene (Rallapalli PM et al. 2013). The Reactome event describes failed generation of FXa as the functional consequence of the defective serine protease activity of hemophilia B (HB)-associated FIX variants such as G363R & G363E (Lu Q et al. 2015), G357E (Miyata T et al. 1991), A436V (Usharani P et al. 1985), I443T (Hamaguchi N et al. 1991), G409V (Bajaj SP et al. 1990), D410H and S411G (Ludwig M et al. 1992).
Literature References
PubMed ID Title Journal Year
2105717 Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not L-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothrombin time and the mutation site in the variant proteins

Warn-Cramer, BJ, Spitzer, SG, Bajaj, SP, Kasper, CK

Biochem. J. 1990
1346975 Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX

Ludwig, M, Brackmann, HH, Smith, KJ, Birktoft, JJ, Sabharwal, AK, Olek, K, Bajaj, SP

Blood 1992
1958666 Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities

Mitsui, K, Naka, H, Sugimoto, M, Kamiya, K, Umeyama, H, Yoshioka, A, Fukui, H, Sakai, T, Miyata, T, Yamamoto, K

Biochemistry 1991
26023895 Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients

Wang, X, Rezaie, AR, Yang, L, Lu, Q, Manithody, C

Biochemistry 2015
3965513 Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site

Warn-Cramer, BJ, Usharani, P, Bajaj, SP, Kasper, CK

J. Clin. Invest. 1985
2303434 Experimental and theoretical evidence supporting the role of Gly363 in blood coagulation factor IXa (Gly193 in chymotrypsin) for proper activation of the proenzyme

Welsh, WJ, Warn-Cramer, BJ, Birktoft, JJ, Spitzer, SG, Kasper, CK, Bajaj, SP

J. Biol. Chem. 1990
Name Identifier Synonyms
hemophilia B DOID:12259 factor IX deficiency, Congenital factor IX deficiency, deficiency, functional factor IX, Congenital factor IX disorder
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