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Details on Person Defective ANO6 does not expose PS, PE on the platelet membrane
| Class:Id | FailedReaction:9853849 |
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| _displayName | Defective ANO6 does not expose PS, PE on the platelet membrane |
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| _doRelease | TRUE |
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| _timestamp | 2026-01-27 16:11:37 |
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| authored | [InstanceEdit:9853845] Shamovsky, Veronica, 2023-11-21 |
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| catalystActivity | [CatalystActivity:9980052] phospholipid scramblase activity of ANO6 variant:Ca2+ [plasma membrane] |
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| compartment | [Compartment:947587] cytoplasmic side of plasma membrane
[Compartment:947586] external side of plasma membrane
[Compartment:876] plasma membrane |
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| created | [InstanceEdit:9853845] Shamovsky, Veronica, 2023-11-21 |
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| disease | [Disease:9696604] blood coagulation disease |
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| edited | [InstanceEdit:9937613] Shamovsky, Veronica, 2025-02-05 |
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| entityFunctionalStatus | [EntityFunctionalStatus:9853847] loss_of_function of ANO6 variant:Ca2+ [plasma membrane] |
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| input | [DefinedSet:947588] APLs [cytoplasmic side of plasma membrane] |
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| internalReviewed | [InstanceEdit:9937296] D'Eustachio, Peter, 2025-01-30 |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:9853851] Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome
[LiteratureReference:9853797] Calcium-dependent phospholipid scrambling by TMEM16F
[LiteratureReference:9854633] A new mutation of ANO6 in two familial cases of Scott syndrome |
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| modified | [InstanceEdit:9854637] Shamovsky, Veronica, 2023-11-28
[InstanceEdit:9930869] Shamovsky, Veronica, 2024-12-06
[InstanceEdit:9938680] Shamovsky, Veronica, 2025-02-18
[InstanceEdit:9938799] Shamovsky, Veronica, 2025-02-19
[InstanceEdit:9938835] Shamovsky, Veronica, 2025-02-20
[InstanceEdit:9938876] Shamovsky, Veronica, 2025-02-20
[InstanceEdit:9979490] Shamovsky, Veronica, 2026-01-20
[InstanceEdit:9980051] Shamovsky, Veronica, 2026-01-24
[InstanceEdit:9980327] Shamovsky, Veronica, 2026-01-27 |
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| name | Defective ANO6 does not expose PS, PE on the platelet membrane |
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| normalReaction |
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| previousReviewStatus | [ReviewStatus:9821380] one star |
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| releaseDate | 2026-03-25 |
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| reviewStatus | [ReviewStatus:9821383] three stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:9853853] R-HSA-9853849.1 |
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| structureModified | [InstanceEdit:9938876] Shamovsky, Veronica, 2025-02-20
[InstanceEdit:9980051] Shamovsky, Veronica, 2026-01-24 |
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| summation | [Summation:9854626] In healthy individuals, anoctamin-6 (ANO6, also known as TME... |
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| (hasEvent) | [Pathway:9853846] Defective ANO6 does not expose PS, PE on the platelet membrane [Homo sapiens] |
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