Reactome | OTC N47I [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
componentOf	[Complex:R-HSA-9958240] OTC N47I trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958240] OTC N47I trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958240] OTC N47I trimer [mitochondrial matrix] - Homo sapiens
created	[InstanceEdit:9957956] Rothfels, Karen, 2025-06-19
crossReference	[DatabaseIdentifier:12020910] Mondo:0010703 [DatabaseIdentifier:9957723] ClinGen:CA224465
dbId	9957955
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
displayName	OTC N47I [mitochondrial matrix]
endCoordinate	46
hasModifiedResidue	[ReplacedResidue:9957759] L-asparagine 47 replaced with L-isoleucine
inDisease	true
literatureReference	[LiteratureReference:9957568] Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency [LiteratureReference:9957606] Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane [LiteratureReference:9956207] The functional impact of 1,570 individual amino acid substitutions in human OTC
maxDepth	1
modified	[InstanceEdit:9958461] Rothfels, Karen, 2025-06-20
name	OTC N47I
referenceEntity	[ReferenceGeneProduct:uniprot:P00480] UniProt:P00480 OTC
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9957955
startCoordinate	1

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