Reactome | F8 variant is not cleaved by thrombin

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F8 variant is not cleaved by thrombin Show undefined attributes

authored	[InstanceEdit:9660568] Shamovsky, Veronica, 2019-09-09
catalystActivity	[CatalystActivity:139890] serine-type endopeptidase activity of activated thrombin (factor IIa) [extracellular region]
category	transition
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9666389] Shamovsky, Veronica, 2019-11-05
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602
dbId	9666383
disease	[Disease:9661959] factor VIII deficiency
displayName	F8 variant is not cleaved by thrombin
edited	[InstanceEdit:9690131] Shamovsky, Veronica, 2020-05-26
entityFunctionalStatus	[EntityFunctionalStatus:9666390] loss_of_function of FVIII variant:vWF multimer [extracellular region]
eventOf	[Pathway:R-HSA-9672391] Defective F8 cleavage by thrombin - Homo sapiens
input	[Complex:R-HSA-9666393] FVIII variant:vWF multimer [extracellular region]
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9666384] Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A [LiteratureReference:9666402] Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain [LiteratureReference:9667108] CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site [LiteratureReference:9667112] Factor VIII S373L: mutation at P1' site confers thrombin cleavage resistance, causing mild haemophilia A [LiteratureReference:9667111] Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A [LiteratureReference:9665856] Thrombin-catalyzed activation of factor VIII with His substituted for Arg372 at the P1 site [LiteratureReference:9665861] Cleavage at Arg-1689 influences heavy chain cleavages during thrombin-catalyzed activation of factor VIII
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	F8 variant is not cleaved by thrombin
normalReaction	[Reaction:R-HSA-158137] factor VIII:von Willibrand factor multimer -> factor VIIIa + factor VIIIa B A3 acidic polypeptide + von Willibrand factor multimer
precedingEvent	[Reaction:R-HSA-158118] factor VIII + von Willebrand factor multimer -> factor VIII:von Willibrand factor multimer - Homo sapiens [Reaction:R-HSA-140664] prothrombin -> activated thrombin (factor IIa) + thrombin activation peptide (prothrombinase catalyst) - Homo sapiens
releaseDate	2020-06-10
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9673821] D'Eustachio, Peter, 2020-01-09 [InstanceEdit:9681505] Zhang, Bin, 2020-04-02
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9666383
summation	[Summation:9666395] In normal human plasma factor VIII (FVIII) complexed to von ...

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[Pathway:R-HSA-9672391] Defective F8 cleavage by thrombin