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Query author contributions in Reactome

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Details on Person ASS1 R272C [cytosol]

Class:IdEntityWithAccessionedSequence:9959122
_displayNameASS1 R272C [cytosol]
_timestamp2025-06-26 18:13:49
compartment[Compartment:70101] cytosol
created[InstanceEdit:9959152] Rothfels, Karen, 2025-06-26
crossReference[DatabaseIdentifier:9959120] ClinGen:CA5283537
disease[Disease:9956453] citrullinemia
endCoordinate412
hasModifiedResidue[ReplacedResidue:9959096] L-arginine 272 replaced with L-cysteine
literatureReference[LiteratureReference:9958726] Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients
[LiteratureReference:480782] Isolation and expression of novel human glutamate carboxypeptidases with N-acetylated alpha-linked acidic dipeptidase and dipeptidyl peptidase IV activity
[LiteratureReference:9958765] Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia
[LiteratureReference:9958703] Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells
nameASS1 R272C
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:9959186] R-HSA-9959122.1
startCoordinate1
(hasMember)[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 R272C [cytosol] (9959122)
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