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Query author contributions in Reactome

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Details on Person ASS1 R127Q [cytosol]

Class:IdEntityWithAccessionedSequence:9959149
_displayNameASS1 R127Q [cytosol]
_timestamp2025-06-26 18:13:49
compartment[Compartment:70101] cytosol
created[InstanceEdit:9959152] Rothfels, Karen, 2025-06-26
crossReference[DatabaseIdentifier:9959109] ClinGen:CA5283261
disease[Disease:9956453] citrullinemia
endCoordinate412
hasModifiedResidue[ReplacedResidue:9959078] L-arginine 127 replaced with L-glutamine
literatureReference[LiteratureReference:9958760] Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation
[LiteratureReference:9958761] Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)
[LiteratureReference:451985] Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene
nameASS1 R127Q
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:9959170] R-HSA-9959149.1
startCoordinate1
(hasMember)[CandidateSet:9959191] ASS1 variants with altered thermal stability and compromised arginosuccinate synthase activity [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by ASS1 R127Q [cytosol] (9959149)
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