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Query author contributions in Reactome

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Details on Person OTC R277W [mitochondrial matrix]

Class:IdEntityWithAccessionedSequence:9958175
_displayNameOTC R277W [mitochondrial matrix]
_timestamp2025-06-19 19:11:01
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9958167] Rothfels, Karen, 2025-06-19
crossReference[DatabaseIdentifier:9958133] ClinGen:CA255648
disease[Disease:9956407] ornithine carbamoyltransferase deficiency
endCoordinate354
hasModifiedResidue[ReplacedResidue:9956388] L-arginine 277 replaced with L-tryptophan
literatureReference[LiteratureReference:9956207] The functional impact of 1,570 individual amino acid substitutions in human OTC
[LiteratureReference:9958107] Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia
[LiteratureReference:9958116] Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency
nameOTC R277W
ornithine transcarbamylase
ornithine carbamoyltransferase, mitochondrial
referenceEntity[ReferenceGeneProduct:61024] UniProt:P00480 OTC [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9958279] R-HSA-9958175.1
startCoordinate33
(hasComponent)[Complex:9958211] OTC R277W trimer [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by OTC R277W [mitochondrial matrix] (9958175)
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