Reactome | POMT2 I198N [endoplasmic reticulum membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:5617054] Jassal, Bijay, 2014-07-30
crossReference	[DatabaseIdentifier:12020896] Mondo:0013159
dbId	5617111
disease	[Disease:5615537] muscular dystrophy-dystroglycanopathy
displayName	POMT2 I198N [endoplasmic reticulum membrane]
endCoordinate	750
hasModifiedResidue	[ReplacedResidue:5617095] L-isoleucine 198 replaced with L-asparagine
inDisease	true
maxDepth	1
memberOf	[DefinedSet:R-HSA-5617028] POMT2 mutants [endoplasmic reticulum membrane] - Homo sapiens
name	POMT2 I198N Protein O-mannosyl-transferase 2 ecNumber2.4.1.109/ecNumber POMT2_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q9UKY4] UniProt:Q9UKY4 POMT2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5617111
startCoordinate	1

(hasMember)

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