Reactome | MUTYH-3 R260Q [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9606362] Orlic-Milacic, Marija, 2018-04-20
crossReference	[DatabaseIdentifier:12021452] Mondo:0013433 [DatabaseIdentifier:9606360] COSMIC:COSV58343486
dbId	9606359
disease	[Disease:9605309] familial adenomatous polyposis [Disease:4791250] colorectal cancer [Disease:1500687] stomach cancer [Disease:8853118] cholangiocarcinoma [Disease:9606535] primary sclerosing cholangitis
displayName	MUTYH-3 R260Q [nucleoplasm]
endCoordinate	535
hasModifiedResidue	[ReplacedResidue:9606361] L-arginine 260 replaced with L-glutamine
inDisease	true
literatureReference	[LiteratureReference:9606347] Characterization of mutant MUTYH proteins associated with familial colorectal cancer [LiteratureReference:9606534] Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma
maxDepth	1
memberOf	[DefinedSet:R-HSA-9608300] MUTYH binding LOF mutants [nucleoplasm] - Homo sapiens [CandidateSet:R-HSA-9605329] MUTYH LOF mutants [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9606667] Orlic-Milacic, Marija, 2018-04-24
name	MUTYH-3 R260Q MUTYH-3 Arg260Gln MUTYH alpha-3 R260Q MUTYH alpha-3 Arg260Gln
referenceEntity	[ReferenceIsoform:uniprot:Q9UIF7-3] UniProt:Q9UIF7-3 MUTYH
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9606359
startCoordinate	1

(hasMember)

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