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Details on Person F5 R534Q, A540V is not cleaved by activated protein C
| Class:Id | FailedReaction:9930452 |
| _displayName | F5 R534Q, A540V is not cleaved by activated protein C |
| _doRelease | TRUE |
| _timestamp | 2026-01-27 16:12:36 |
| authored | [InstanceEdit:9930429] Shamovsky, Veronica, 2024-12-03 |
| catalystActivity | [CatalystActivity:141025] serine-type endopeptidase activity of Activated protein C:Protein S [plasma membrane] |
| compartment | [Compartment:984] extracellular region |
| created | [InstanceEdit:9930429] Shamovsky, Veronica, 2024-12-03 |
| disease | [Disease:9668251] thrombophilia |
| edited | [InstanceEdit:9937613] Shamovsky, Veronica, 2025-02-05 |
| entityFunctionalStatus | [EntityFunctionalStatus:9930431] loss_of_function of FV R534Q, FV A540V [extracellular region] |
| input | [DefinedSet:9930490] FV R534Q, FV A540V [extracellular region] [Homo sapiens] |
| internalReviewed | [InstanceEdit:9937296] D'Eustachio, Peter, 2025-01-30 |
| literatureReference | [LiteratureReference:9930447] Mutation in blood coagulation factor V associated with resistance to activated protein C [LiteratureReference:9930475] Mechanisms of the factor V Leiden paradox [LiteratureReference:9930462] Identification and functional characterization of a novel F5 mutation (Ala512Val, FVB onn ) associated with activated protein C resistance |
| modified | [InstanceEdit:9930765] Shamovsky, Veronica, 2024-12-06 [InstanceEdit:9938680] Shamovsky, Veronica, 2025-02-18 [InstanceEdit:9938835] Shamovsky, Veronica, 2025-02-20 [InstanceEdit:9979498] Shamovsky, Veronica, 2026-01-20 [InstanceEdit:9980332] Shamovsky, Veronica, 2026-01-27 |
| name | F5 R534Q, A540V is not cleaved by activated protein C Defective F5 is not cleaved at a.a.534 by activated protein C |
| normalReaction |
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| releaseDate | 2026-03-25 |
| reviewStatus | [ReviewStatus:9821383] three stars |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:9930507] R-HSA-9930452.1 |
| summation | [Summation:9930438] Under normal physiological conditions, activated protein C (... |
| (hasEvent) | [Pathway:9930449] Defective cleavage of FV variant at a.a.534 [Homo sapiens] |
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