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Details on Person OTC G269E [mitochondrial matrix]
| Class:Id | EntityWithAccessionedSequence:9957875 |
|---|---|
| _displayName | OTC G269E [mitochondrial matrix] |
| _timestamp | 2025-06-19 00:02:42 |
| compartment | [Compartment:5460] mitochondrial matrix |
| created | [InstanceEdit:9957874] Rothfels, Karen, 2025-06-19 |
| crossReference | [DatabaseIdentifier:9957692] ClinGen:CA224800 |
| disease | [Disease:9956407] ornithine carbamoyltransferase deficiency |
| endCoordinate | 268 |
| hasModifiedResidue | [ReplacedResidue:9957800] glycine 269 replaced with L-glutamic acid |
| literatureReference | [LiteratureReference:9957527] A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency |
| name | OTC G269E |
| referenceEntity | [ReferenceGeneProduct:61024] UniProt:P00480 OTC [Homo sapiens] |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:9957876] R-HSA-9957875.1 |
| startCoordinate | 1 |
| (hasComponent) | [Complex:9958159] OTC G269E trimer [mitochondrial matrix] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by OTC G269E [mitochondrial matrix] (9957875)
