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Details on Person CPS1 Y1491H [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9955385
_displayName	CPS1 Y1491H [mitochondrial matrix]
_timestamp	2025-06-10 18:06:43
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9955409] Rothfels, Karen, 2025-06-10
disease	[Disease:9955434] carbamoyl phosphate synthetase I deficiency disease
endCoordinate	1500
hasModifiedResidue	[ReplacedResidue:9955343] L-tyrosine 1491 replaced with L-histidine
literatureReference	[LiteratureReference:9955126] Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis
name	CPS1 Y1491H carbamoyl-phosphate synthetase I carbamoyl-phosphate synthase (ammonia), mitochondrial CPSase I
referenceEntity	[ReferenceGeneProduct:52710] UniProt:P31327 CPS1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9955477] R-HSA-9955385.1
startCoordinate	39
(hasCandidate)	[CandidateSet:9955383] NAG-binding domain variants of CPS1 [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by CPS1 Y1491H [mitochondrial matrix] (9955385)