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Details on Person ASS1 Y359D [cytosol]

Class:Id	EntityWithAccessionedSequence:9959129
_displayName	ASS1 Y359D [cytosol]
_timestamp	2025-06-26 18:13:49
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9959152] Rothfels, Karen, 2025-06-26
crossReference	[DatabaseIdentifier:9959119] ClinGen:CA375232195
disease	[Disease:9956453] citrullinemia
endCoordinate	412
hasModifiedResidue	[ReplacedResidue:9959092] L-tyrosine 359 replaced with L-aspartic acid
literatureReference	[LiteratureReference:451985] Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene [LiteratureReference:9958766] Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations
name	ASS1 Y359D argininosuccinate synthase argininosuccinic acid synthetase citrulline-aspartate ligase Citrulline--aspartate ligase
referenceEntity	[ReferenceGeneProduct:50409] UniProt:P00966 ASS1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9959168] R-HSA-9959129.1
startCoordinate	1
(hasCandidate)	[CandidateSet:9959192] ASS1 variants with decreased affinity for aspartate and compromised arginosuccinate synthase activity [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by ASS1 Y359D [cytosol] (9959129)