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Details on Person CPS1 P774L [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9955408
_displayName	CPS1 P774L [mitochondrial matrix]
_timestamp	2025-06-10 18:06:44
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:9955330] L-proline 774 replaced with L-leucine
literatureReference	[LiteratureReference:9955126] Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis
name	CPS1 P774L 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:9955481] R-HSA-9955408.1
startCoordinate	39
(hasMember)	[CandidateSet:9955423] bicarbonate phosphorylation domain variants of CPS1 [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by CPS1 P774L [mitochondrial matrix] (9955408)