Reactome | ASS1 R272H [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9959152] Rothfels, Karen, 2025-06-26
crossReference	[DatabaseIdentifier:12020911] Mondo:0015991 [DatabaseIdentifier:9959110] ClinGen:CA375229492
dbId	9959155
disease	[Disease:9956453] citrullinemia
displayName	ASS1 R272H [cytosol]
endCoordinate	412
hasModifiedResidue	[ReplacedResidue:9959102] L-arginine 272 replaced with L-histidine
inDisease	true
literatureReference	[LiteratureReference:9958760] Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation
maxDepth	1
memberOf	[CandidateSet:R-HSA-9959192] ASS1 variants with decreased affinity for aspartate and compromised arginosuccinate synthase activity [cytosol] - Homo sapiens
name	ASS1 R272H argininosuccinate synthase argininosuccinic acid synthetase citrulline-aspartate ligase Citrulline--aspartate ligase
referenceEntity	[ReferenceGeneProduct:uniprot:P00966] UniProt:P00966 ASS1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9959155
startCoordinate	1

(hasMember)

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