Reactome | ARG1 R180T [cytosol]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9959636] ARG1 variants that disrupt enzyme stability and folding [cytosol] - Homo sapiens
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9959615] Rothfels, Karen, 2025-06-30
crossReference	[DatabaseIdentifier:12020906] Mondo:0008814 [DatabaseIdentifier:9959566] ClinGen:CA365651457
dbId	9959616
disease	[Disease:9956469] hyperargininemia
displayName	ARG1 R180T [cytosol]
endCoordinate	322
hasModifiedResidue	[ReplacedResidue:9959542] L-arginine 180 replaced with L-threonine
inDisease	true
literatureReference	[LiteratureReference:9959550] Five novel mutations in ARG1 gene in Chinese patients of argininemia
maxDepth	1
name	ARG1 R180T arginase 1 liver-type arginase Arginase 1
referenceEntity	[ReferenceGeneProduct:uniprot:P05089] UniProt:P05089 ARG1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9959616
startCoordinate	1

(hasCandidate)

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