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Details on Person OTC G195R [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9956412
_displayName	OTC G195R [mitochondrial matrix]
_timestamp	2025-06-19 19:11:19
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9956414] Rothfels, Karen, 2025-06-12
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
endCoordinate	354
hasModifiedResidue	[ReplacedResidue:9956392] glycine 195 replaced with L-arginine
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:9956187] Seven new mutations in the human ornithine transcarbamylase gene
modified	[InstanceEdit:9958343] Rothfels, Karen, 2025-06-19
name	OTC G195R ornithine transcarbamylase ornithine carbamoyltransferase, mitochondrial
referenceEntity	[ReferenceGeneProduct:61024] UniProt:P00480 OTC [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9956437] R-HSA-9956412.1
startCoordinate	33
(hasComponent)	[Complex:9956455] OTC G195R trimer [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by OTC G195R [mitochondrial matrix] (9956412)