Reactome | ABCD1 R617C [peroxisomal membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17947] peroxisomal membrane
created	[InstanceEdit:5685106] Jassal, Bijay, 2015-03-25
crossReference	[DatabaseIdentifier:12020977] Mondo:0018544
dbId	5685069
disease	[Disease:5684042] adrenoleukodystrophy
displayName	ABCD1 R617C [peroxisomal membrane]
endCoordinate	745
hasModifiedResidue	[ReplacedResidue:8847941] L-arginine 617 replaced with L-cysteine
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-5685092] ABCD1 mutants [peroxisomal membrane] - Homo sapiens
modified	[InstanceEdit:8847942] D'Eustachio, Peter, 2015-12-03
name	ABCD1 R617C ALDP
referenceEntity	[ReferenceGeneProduct:uniprot:P33897] UniProt:P33897 ABCD1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5685069
startCoordinate	1
updateTrackers	[UpdateTracker:9893343] Update Tracker - [EntityWithAccessionedSequence:5685069] ABCD1 R617C [peroxisomal membrane] - v56:[addHasModifiedResidue]

(updatedInstance)	[UpdateTracker:9893343] Update Tracker - [EntityWithAccessionedSequence:5685069] ABCD1 R617C [peroxisomal membrane] - v56:[addHasModifiedResidue]
(hasMember)	[DefinedSet:R-HSA-5685092] ABCD1 mutants [peroxisomal membrane]

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