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Details on Person OTC P225L [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9957968
_displayName	OTC P225L [mitochondrial matrix]
_timestamp	2025-06-19 19:11:28
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9957967] Rothfels, Karen, 2025-06-19
crossReference	[DatabaseIdentifier:9957697] ClinGen:CA224741
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
endCoordinate	224
hasModifiedResidue	[ReplacedResidue:9956397] L-proline 225 replaced with L-leucine
literatureReference	[LiteratureReference:9957548] Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene [LiteratureReference:9957597] Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency
modified	[InstanceEdit:9958345] Rothfels, Karen, 2025-06-19
name	OTC P225L
referenceEntity	[ReferenceGeneProduct:61024] UniProt:P00480 OTC [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9957969] R-HSA-9957968.1
startCoordinate	1
(hasComponent)	[Complex:9958189] OTC P225L trimer [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by OTC P225L [mitochondrial matrix] (9957968)