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

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

Blood 1999
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

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

Blood 2001
12428094 Hemophilia A mutations within the factor VIII A2-A3 subunit interface destabilize factor VIIIa and cause one-stage/two-stage activity discrepancy

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

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