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

Schema > CandidateSet > Entries

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

compartment	[Compartment:984] extracellular region
componentOf	[Complex:R-HSA-9670051] factor VIIIa with defective A2 domain [extracellular region] - Homo sapiens
created	[InstanceEdit:9670053] Shamovsky, Veronica, 2019-12-04
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602
dbId	9670027
disease	[Disease:9661959] factor VIII deficiency
displayName	F8(392-759) A2 domain variant [extracellular region]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-9670031] F8(392-759) R550C [extracellular region] - Homo sapiens
hasMember	[EntityWithAccessionedSequence:R-HSA-9670041] F8(392-759) R550H [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670044] F8(392-759) R550G [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670060] F8(392-759) N713I [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670058] F8(392-759) R717L [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670048] F8(392-759) R717W [extracellular region] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:9670042] 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 [LiteratureReference:9662327] Hemophilia A mutations within the factor VIII A2-A3 subunit interface destabilize factor VIIIa and cause one-stage/two-stage activity discrepancy [LiteratureReference:9670046] Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo
maxDepth	2
name	F8(392-759) A2 domain variant FVIIIa A2 domain variant
producedByEvent	[Reaction:R-HSA-9670054] Defects in F8 A2 domain accelerate dissociation of the A2 domain - Homo sapiens
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9670027
summation	[Summation:9670039] Haemophilia A-associated mutations within the predicted A1-A...

Referrals

(output)	[Reaction:R-HSA-9670054] Defects in F8 A2 domain accelerate dissociation of the A2 domain
(hasComponent)	[Complex:R-HSA-9670051] factor VIIIa with defective A2 domain [extracellular region]

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