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Details on Person Defective ADA does not deaminate (deoxy)adenosine
| Class:Id | FailedReaction:9734745 |
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| _displayName | Defective ADA does not deaminate (deoxy)adenosine |
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| _doRelease | TRUE |
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| _timestamp | 2022-03-01 19:00:13 |
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| authored | [InstanceEdit:9735771] D'Eustachio, Peter, 2021-07-02 |
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| catalystActivity | [CatalystActivity:9734737] deaminase activity of ADA mutants [cytosol] |
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| catalystActivityReference | [CatalystActivityReference:9734742] deaminase activity of ADA mutants [cytosol] Hot spot mutations in adenosine deaminase deficiency |
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| compartment | [Compartment:70101] cytosol |
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| created | [InstanceEdit:9734740] D'Eustachio, Peter, 2021-06-18 |
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| disease | [Disease:9734746] adenosine deaminase deficiency |
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| edited | [InstanceEdit:9736402] Jassal, Bijay, 2021-07-09 |
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| entityFunctionalStatus | [EntityFunctionalStatus:9734739] loss_of_function of ADA mutants [cytosol] |
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| input | [DefinedSet:500173] Ade-Rib, dA [cytosol]
[SimpleEntity:29356] H2O [cytosol] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:9734724] Hot spot mutations in adenosine deaminase deficiency
[LiteratureReference:9734722] Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency |
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| modified | [InstanceEdit:9734758] D'Eustachio, Peter, 2021-06-18
[InstanceEdit:9736404] D'Eustachio, Peter, 2021-07-09
[InstanceEdit:9757301] D'Eustachio, Peter, 2021-10-28
[InstanceEdit:9757728] D'Eustachio, Peter, 2021-11-04
[InstanceEdit:9764258] D'Eustachio, Peter, 2022-02-10
[InstanceEdit:9764573] D'Eustachio, Peter, 2022-02-11
[InstanceEdit:9767862] D'Eustachio, Peter, 2022-03-01
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective ADA does not deaminate (deoxy)adenosine |
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| normalReaction |
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| releaseDate | 2022-03-23 |
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| reviewed | [InstanceEdit:9736402] Jassal, Bijay, 2021-07-09 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:9734752] R-HSA-9734745.2 |
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| summation | [Summation:9734744] Normally in humans, adenosine and deoxyadenosine can be deam... |
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| (hasEvent) | [Pathway:9734735] Defective ADA disrupts (deoxy)adenosine deamination [Homo sapiens] |
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