Query author contributions in Reactome

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Details on Person ASL R456W [cytosol]

Class:IdEntityWithAccessionedSequence:9959361
_displayNameASL R456W [cytosol]
_timestamp2025-06-27 20:53:52
compartment[Compartment:70101] cytosol
created[InstanceEdit:9959358] Rothfels, Karen, 2025-06-27
crossReference[DatabaseIdentifier:9959359] ClinGen:CA4277402
disease[Disease:9956465] argininosuccinic aciduria
endCoordinate464
hasModifiedResidue[ReplacedResidue:9959316] L-arginine 456 replaced with L-tryptophan
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
nameASL R456W
argininosuccinate lyase
arginosuccinase
referenceEntity[ReferenceGeneProduct:50291] UniProt:P04424 ASL [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9959376] R-HSA-9959361.1
startCoordinate1
(hasCandidate)[CandidateSet:9956471] ASL variants [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by ASL R456W [cytosol] (9959361)