Reactome | Defective cleavage of FV variant at a.a.534

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authored	[InstanceEdit:9930429] Shamovsky, Veronica, 2024-12-03
created	[InstanceEdit:9930429] Shamovsky, Veronica, 2024-12-03
crossReference	[DatabaseIdentifier:12020815] Mondo:0002305
dbId	9930449
disease	[Disease:9668251] thrombophilia
displayName	Defective cleavage of FV variant at a.a.534
edited	[InstanceEdit:9937613] Shamovsky, Veronica, 2025-02-05
eventOf	[Pathway:R-HSA-9930483] Defective FV causes thrombophilia - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-9930452] F5 R534Q, A540V is not cleaved by activated protein C - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9930475] Mechanisms of the factor V Leiden paradox [LiteratureReference:9930414] Factor V Leiden [LiteratureReference:9930447] Mutation in blood coagulation factor V associated with resistance to activated protein C [LiteratureReference:9930462] Identification and functional characterization of a novel F5 mutation (Ala512Val, FVB onn ) associated with activated protein C resistance
maxDepth	2
modified	[InstanceEdit:9980329] Shamovsky, Veronica, 2026-01-27
name	Defective cleavage of FV variant at a.a.534
normalPathway	[Pathway:R-HSA-9769739] Regulation of clotting cascade
releaseDate	2026-03-25
releaseStatus	NEW
reviewStatus	[ReviewStatus:9821383] three stars
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9930449
summation	[Summation:9930457] Factor V Leiden (the most common) and Factor V Bonn thrombop...

(hasEvent)

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