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F8(20-372) variant [extracellular region]
Stable Identifier
R-HSA-9670040
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
FVIIIa A1 domain variant
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of hemostasis (Homo sapiens)
Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) (Homo sapiens)
Defective factor VIII causes hemophilia A (Homo sapiens)
Defective F8 accelerates dissociation of the A2 domain (Homo sapiens)
Defects in F8 A1 domain accelerate dissociation of the A2 domain (Homo sapiens)
factor VIIIa A1 variant:A3-C1-C2 [extracellular region] (Homo sapiens)
F8(20-372) variant [extracellular region] (Homo sapiens)
factor VIIIa with defective A1 domain [extracellular region] (Homo sapiens)
F8(20-372) variant [extracellular region] (Homo sapiens)
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
Kaufman, RJ
,
Saenko, EL
,
Kemball-Cook, G
,
Pipe, SW
,
Eickhorst, AN
Blood
2001
Participants
members
F8(20-391) S308L [extracellular region]
(Homo sapiens)
F8(20-391) A303E [extracellular region]
(Homo sapiens)
Participates
as a component of
factor VIIIa A1 variant:A3-C1-C2 [extracellular region] (Homo sapiens)
factor VIIIa with defective A1 domain [extracellular region] (Homo sapiens)
Disease
Name
Identifier
Synonyms
factor VIII deficiency
DOID:12134
Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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