FVIII C1, C2 domain variants [extracellular region]

Stable Identifier
Set [CandidateSet]
Homo sapiens
F8 variants with mutations in the C1, C2 domains
Locations in the PathwayBrowser

Set of F8 variants in HEMA patients that showed reduced binding to von Willebrand factor.

Literature References
PubMed ID Title Journal Year
15471879 Surface-exposed hemophilic mutations across the factor VIII C2 domain have variable effects on stability and binding activities

Spiegel, PC, Stoddard, BL, Murphy, P

J. Biol. Chem. 2004
12969981 Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development

d'Oiron, R, Lavend'homme, R, Lavergne, JM, Jacquemin, M, Vermylen, J, Negrier, C, Bordet, JC, Benhida, A, Saint-Remy, JM, Peerlinck, K

Blood 2004
10910913 Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure

Fujikawa, K, Nakaya, S, Pratt, KP, Davie, EW, Stoddard, BL, Shen, BW, Thompson, AR, Liu, ML

Blood 2000
10456452 Some factor VIII (FVIII) inhibitors recognise a FVIII epitope(s) that is present only on FVIII-vWF complexes

Saint-Remy, JM, Mazurier, C, Jorieux, S, Gilles, JG, Peerlinck, K, Jacquemin, MG, Vermylen, J, Hoylaerts, M, Lavend'homme, R

Thromb. Haemost. 1999
10910910 A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor

Saint-Remy, JM, Gilles, JG, Schwaab, R, Jacquemin, M, Peerlinck, K, Vanzieleghem, B, Benhida, A, Chuah, MK, d'Oiron, R, Lavergne, JM, Brackmann, HH, Vermylen, J, Hoylaerts, M, VandenDriessche, T, Lavend'homme, R

Blood 2000
21909383 Storage of factor VIII variants with impaired von Willebrand factor binding in Weibel-Palade bodies in endothelial cells

Voorberg, J, Bouwens, EA, van den Biggelaar, M, Mertens, K

PLoS ONE 2011
26278069 Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity

Nogami, K, Wakabayashi, H, Takeyama, M, Shima, M, Ogiwara, K, Yada, K

J. Thromb. Haemost. 2015
10607698 A human antibody directed to the factor VIII C1 domain inhibits factor VIII cofactor activity and binding to von Willebrand factor

Saint-Remy, JM, Vander Elst, L, Gilles, JG, Schwaab, R, Jacquemin, M, Peerlinck, K, Benhida, A, d'Oiron, R, Thielemans, K, Bakkus, M, Desqueper, B, Vermylen, J, Lavend'homme, R

Blood 2000
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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