F8(392-759) A2 domain variant [extracellular region]

Stable Identifier
Set [CandidateSet]
Homo sapiens
FVIIIa A2 domain variant
Locations in the PathwayBrowser

Haemophilia A-associated mutations within the predicted A1-A2 and A1-A3 interface that have the molecular phenotype of increased rate of inactivation of FVIIIa due to increased rate of A2 subunit dissociation.

Literature References
PubMed ID Title Journal Year
11157485 Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa

Pipe, SW, Saenko, EL, Eickhorst, AN, Kemball-Cook, G, Kaufman, RJ

Blood 2001
9864159 Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo

Pipe, SW, Eickhorst, AN, McKinley, SH, Saenko, EL, Kaufman, RJ

Blood 1999
12428094 Hemophilia A mutations within the factor VIII A2-A3 subunit interface destabilize factor VIIIa and cause one-stage/two-stage activity discrepancy

Hakeos, WH, Miao, H, Sirachainan, N, Kemball-Cook, G, Saenko, EL, Kaufman, RJ, Pipe, SW

Thromb. Haemost. 2002
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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