Reactome | OTC T287I [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
componentOf	[Complex:R-HSA-9958232] OTC T287I trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958232] OTC T287I trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958232] OTC T287I trimer [mitochondrial matrix] - Homo sapiens
created	[InstanceEdit:9958031] Rothfels, Karen, 2025-06-19
crossReference	[DatabaseIdentifier:12020910] Mondo:0010703 [DatabaseIdentifier:9957739] ClinGen:CA412723876
dbId	9958030
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
displayName	OTC T287I [mitochondrial matrix]
endCoordinate	286
hasModifiedResidue	[ReplacedResidue:9957752] L-threonine 287 replaced with L-isoleucine
inDisease	true
literatureReference	[LiteratureReference:9957541] Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency [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 T287I
referenceEntity	[ReferenceGeneProduct:uniprot:P00480] UniProt:P00480 OTC
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9958030
startCoordinate	1

(hasComponent)

Cite Us!