Reactome | PGM1 R221Vfs*13 [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:5609929] Jassal, Bijay, 2014-07-18
crossReference	[DatabaseIdentifier:12020874] Mondo:0015286
dbId	5609928
disease	[Disease:3781877] congenital disorder of glycosylation
displayName	PGM1 R221Vfs*13 [cytosol]
endCoordinate	233
hasModifiedResidue	[FragmentReplacedModification:5609924] Replacement of residues 221 to 233
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-5609930] PGM1 mutants [cytosol] - Homo sapiens
name	PGM1 R221Vfs*13 phosphoglucomutase 1 Phosphoglucomutase Glucose phosphomutase
referenceEntity	[ReferenceGeneProduct:uniprot:P36871] UniProt:P36871 PGM1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5609928
startCoordinate	1

(hasMember)

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