Reactome | ARG1 variants that disrupt enzyme stability and folding [cytosol]

Schema > CandidateSet > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9959637] Rothfels, Karen, 2025-06-30
crossReference	[DatabaseIdentifier:12020906] Mondo:0008814
dbId	9959636
disease	[Disease:9956469] hyperargininemia
displayName	ARG1 variants that disrupt enzyme stability and folding [cytosol]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-9959618] ARG1 R21* [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959598] ARG1 A125V [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959616] ARG1 R180T [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959631] ARG1 T290S [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959621] ARG1 R291* [cytosol] - Homo sapiens
hasMember	[EntityWithAccessionedSequence:R-HSA-9959613] ARG1 I11T [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959606] ARG1 G27D [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959609] ARG1 G74V [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959601] ARG1 G138V [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959604] ARG1 G235R [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9959625] ARG1 R308Q [cytosol] - Homo sapiens
inDisease	true
maxDepth	2
memberOf	[DefinedSet:R-HSA-9956464] ARG1 variants [cytosol] - Homo sapiens
name	ARG1 variants that disrupt enzyme stability and folding
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9959636

(hasMember)

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