Reactome | F8(373-640) variant [plasma membrane]

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F8(373-640) variant [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-9668353] factor VIIIa variant [plasma membrane] - Homo sapiens
created	[InstanceEdit:9668368] Shamovsky, Veronica, 2019-11-25
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602
dbId	9668369
disease	[Disease:9661959] factor VIII deficiency
displayName	F8(373-640) variant [plasma membrane]
hasMember	[EntityWithAccessionedSequence:R-HSA-9668360] F8(392-759) R546W [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9668357] F8(392-759) I585T [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9668362] F8(392-759) S577F [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9668367] F8(392-759) V578A [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9668364] F8(392-759) D579A [plasma membrane] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:9668373] Substitution of Arg527 and Arg531 in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function [LiteratureReference:9662324] The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII [LiteratureReference:9668349] Mutations associated with hemophilia A in the 558-565 loop of the factor VIIIa A2 subunit alter the catalytic activity of the factor Xase complex
maxDepth	2
modified	[InstanceEdit:9676353] Shamovsky, Veronica, 2020-02-13
name	F8(373-640) variant FVIIIa A2 polypeptide variant F8(373-640) A2 domain variant FVIII(373-640) variant
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9668369

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[Complex:R-HSA-9668353] factor VIIIa variant [plasma membrane]

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