Reactome | HGSNAT W403C;A615T [lysosomal membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17938] lysosomal membrane
created	[InstanceEdit:2245234] Jassal, B, 2012-05-11
dbId	2245245
disease	[Disease:2226052] mucopolysaccharidosis
displayName	HGSNAT W403C;A615T [lysosomal membrane]
endCoordinate	663
hasModifiedResidue	[ReplacedResidue:2245251] L-tryptophan 403 replaced with L-cysteine [ReplacedResidue:2245229] L-alanine 615 replaced with L-threonine
inDisease	true
memberOf	[DefinedSet:R-HSA-2245239] HGSNAT mutants [lysosomal membrane] - Homo sapiens
modified	[InstanceEdit:9832559] Orlic-Milacic, Marija, 2023-04-03
name	HGSNAT W403C;A615T Heparan-alpha-glucosaminide N-acetyltransferase HGNAT_HUMAN p.Trp403Cys/p.Ala615Thr HGSNAT mutant
referenceEntity	[ReferenceGeneProduct:231899] UniProt:Q68CP4 HGSNAT
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2245245
startCoordinate	1

(hasMember)

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