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Details on Person ASL D31N [cytosol]

Class:Id	EntityWithAccessionedSequence:9959337
_displayName	ASL D31N [cytosol]
_timestamp	2025-06-27 20:53:52
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9959358] Rothfels, Karen, 2025-06-27
crossReference	[DatabaseIdentifier:9959318] ClinGen:CA4276827
disease	[Disease:9956465] argininosuccinic aciduria
endCoordinate	464
hasModifiedResidue	[ReplacedResidue:9959305] L-aspartic acid 31 replaced with L-asparagine
literatureReference	[LiteratureReference:9959240] Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene [LiteratureReference:9959254] Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations [LiteratureReference:9959294] Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria
name	ASL D31N argininosuccinate lyase arginosuccinase
referenceEntity	[ReferenceGeneProduct:50291] UniProt:P04424 ASL [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9959369] R-HSA-9959337.1
startCoordinate	1
(hasMember)	[CandidateSet:9956471] ASL variants [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by ASL D31N [cytosol] (9959337)