F9(227-461) variant [plasma membrane]

Stable Identifier
R-HSA-9670837
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
1346975 Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX

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

Blood 1992
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

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

Biochem. J. 1990
1958666 Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities

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

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

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

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

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

J. Clin. Invest. 1985
7803238 Factor IX Bm Kiryu: a Val-313-to-Asp substitution in the catalytic domain results in loss of function due to a conformational change of the surface loop: evidence obtained by chimaeric modelling

Miyata, T, Kuze, K, Matsusue, T, Komooka, H, Kamiya, K, Umeyama, H, Matsui, A, Kato, H, Yoshioka, A

Br. J. Haematol. 1994
2303434 Experimental and theoretical evidence supporting the role of Gly363 in blood coagulation factor IXa (Gly193 in chymotrypsin) for proper activation of the proenzyme

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

J. Biol. Chem. 1990
Participants
Participant Of
Disease
Name Identifier Synonyms
hemophilia B 12259 factor IX deficiency, Congenital factor IX deficiency, deficiency, functional factor IX, Congenital factor IX disorder
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