F9 zymogen variant [extracellular region]

Stable Identifier
Set [CandidateSet]
Homo sapiens
F9 variant
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
2738071 Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties.

Furie, B, Stafford, DW, Diuguid, DL, Liebman, HA, Rabiet, MJ, Ware, J, Kasper, CK, Furie, BC

J Biol Chem 1989
2775660 Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145

Giddings, JC, Bloom, AL, Peake, IR, Lillicrap, DP, Taylor, SA, Liddell, MB

Br. J. Haematol. 1989
3461460 Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor

Diuguid, DL, Furie, BC, Rabiet, MJ, Furie, B, Liebman, HA

Proc. Natl. Acad. Sci. U.S.A. 1986
8295821 The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa

Bischoff, R, Charmantier, JL, Hartmann, ML, Roecklin, D, de la Salle, C, Ohlmann, P, Balland, A, Schuhler, S, Ravanat, C, Ebel, C

Nouv Rev Fr Hematol 1993
2752109 Molecular defects of factor IX Chicago-2 (Arg 145----His) and prothrombin Madrid (Arg 271----cys): arginine mutations that preclude zymogen activation

Diuguid, DL, Furie, BC, Rabiet, MJ, Furie, B

Blood 1989
2162822 Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX

Reitsma, PH, Poort, SR, Mannucci, PM, van der Linden, IK, Bertina, RM, Reinalda-Poot, HH, Cupers, R

J. Biol. Chem. 1990
2592373 Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase

Niho, Y, Suehiro, K, Saito, H, Ogata, K, Takeya, H, Kawabata, S, Kamiya, T, Miyata, T, Iwanaga, S, Takamatsu, J

J. Biol. Chem. 1989
2713493 Functional consequences of an arginine180 to glutamine mutation in factor IX Hilo

Lundblad, RL, Roberts, HR, McCord, DM, High, KA, Huang, MN, Kasper, CK, Monroe, DM

Blood 1989
9169594 Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa

Van Den Berg, M, Wojcik, EG, Poort, SR, Bertina, RM

Biochem. J. 1997
2788012 Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw

Bloom, AL, Peake, IR, Lillicrap, DP, Liddell, MB

Br. J. Haematol. 1989
Name Identifier Synonyms
hemophilia B DOID:12259 factor IX deficiency, Congenital factor IX deficiency, deficiency, functional factor IX, Congenital factor IX disorder
Cite Us!