Reactome | NAGLU R674H [lysosomal lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:2219549] Jassal, B, 2012-05-01
crossReference	[DatabaseIdentifier:12020937] Mondo:0018937
dbId	2219557
disease	[Disease:2226064] mucopolysaccharidosis III
displayName	NAGLU R674H [lysosomal lumen]
endCoordinate	743
hasModifiedResidue	[ReplacedResidue:2219562] L-arginine 674 replaced with L-histidine
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-2219572] NAGLU mutants [lysosomal lumen] - Homo sapiens
modified	[InstanceEdit:5649493] Jassal, Bijay, 2014-11-20
name	NAGLU R674H Alpha-N-acetylglucosaminidase ANAG_HUMAN NAGLU 77kDa form p.Arg674His NAGLU mutant
referenceEntity	[ReferenceGeneProduct:uniprot:P54802] UniProt:P54802 NAGLU
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2219557
startCoordinate	59
updateTrackers	[UpdateTracker:9873635] Update Tracker - [EntityWithAccessionedSequence:2219557] NAGLU R674H [lysosomal lumen] - v43:[addDisease] [UpdateTracker:9890635] Update Tracker - [EntityWithAccessionedSequence:2219557] NAGLU R674H [lysosomal lumen] - v52:[modifyName]

(updatedInstance)	[UpdateTracker:9873635] Update Tracker - [EntityWithAccessionedSequence:2219557] NAGLU R674H [lysosomal lumen] - v43:[addDisease] [UpdateTracker:9890635] Update Tracker - [EntityWithAccessionedSequence:2219557] NAGLU R674H [lysosomal lumen] - v52:[modifyName]
(hasMember)	[DefinedSet:R-HSA-2219572] NAGLU mutants [lysosomal lumen]

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