Reactome | GUSB R216W [lysosomal lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:2318591] Jassal, B, 2012-06-14
dbId	2318584
disease	[Disease:2326771] mucopolysaccharidosis VII
displayName	GUSB R216W [lysosomal lumen]
endCoordinate	651
hasModifiedResidue	[ReplacedResidue:2318597] L-arginine 216 replaced with L-tryptophan
inDisease	true
memberOf	[DefinedSet:R-HSA-2318394] GUSB mutants [lysosomal lumen] - Homo sapiens
modified	[InstanceEdit:3662298] Jassal, B, 2013-06-07
name	GUSB R216W Beta-glucuronidase BGLR_HUMAN p.Arg216Try GUSB
referenceEntity	[ReferenceGeneProduct:50814] UniProt:P08236 GUSB
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2318584
startCoordinate	23

(hasMember)

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