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Details on Person OTC T264A [mitochondrial matrix]

Class:IdEntityWithAccessionedSequence:9956413
_displayNameOTC T264A [mitochondrial matrix]
_timestamp2025-06-12 23:27:52
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9956414] Rothfels, Karen, 2025-06-12
disease[Disease:9956407] ornithine carbamoyltransferase deficiency
endCoordinate354
hasModifiedResidue[ReplacedResidue:9956399] L-threonine 264 replaced with L-alanine
literatureReference[LiteratureReference:9956207] The functional impact of 1,570 individual amino acid substitutions in human OTC
[LiteratureReference:9956158] Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes
[LiteratureReference:9956174] Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations
nameOTC T264A
ornithine transcarbamylase
ornithine carbamoyltransferase, mitochondrial
referenceEntity[ReferenceGeneProduct:61024] UniProt:P00480 OTC [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9956444] R-HSA-9956413.1
startCoordinate33
(hasComponent)[Complex:9956454] OTC T264A trimer [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by OTC T264A [mitochondrial matrix] (9956413)
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