Query author contributions in Reactome
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Details on Person CPS1 R721* [mitochondrial matrix]
| Class:Id | EntityWithAccessionedSequence:9955384 |
|---|---|
| _displayName | CPS1 R721* [mitochondrial matrix] |
| _timestamp | 2025-06-10 18:06:43 |
| compartment | [Compartment:5460] mitochondrial matrix |
| created | [InstanceEdit:9955409] Rothfels, Karen, 2025-06-10 |
| disease | [Disease:9955434] carbamoyl phosphate synthetase I deficiency disease |
| endCoordinate | 1500 |
| hasModifiedResidue | [NonsenseMutation:9955360] Nonsense mutation at L-arginine 721 |
| literatureReference | [LiteratureReference:9954997] Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset |
| name | CPS1 R721* carbamoyl-phosphate synthetase I carbamoyl-phosphate synthase (ammonia), mitochondrial CPSase I |
| referenceEntity | [ReferenceGeneProduct:52710] UniProt:P31327 CPS1 [Homo sapiens] |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:9955447] R-HSA-9955384.1 |
| startCoordinate | 39 |
| (hasCandidate) | [CandidateSet:9955422] nonsense variants of CPS1 [mitochondrial matrix] [Homo sapiens] |
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No pathways have been reviewed or authored by CPS1 R721* [mitochondrial matrix] (9955384)
