Reactome | MUTYH-3 E466del [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9606596] Orlic-Milacic, Marija, 2018-04-23
crossReference	[DatabaseIdentifier:12020963] Mondo:0021055
dbId	9606593
disease	[Disease:9605309] familial adenomatous polyposis [Disease:4791250] colorectal cancer
displayName	MUTYH-3 E466del [nucleoplasm]
endCoordinate	535
hasModifiedResidue	[FragmentDeletionModification:9606592] Deletion of residues 466 to 466
inDisease	true
literatureReference	[LiteratureReference:9606564] MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay [LiteratureReference:9606605] Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis
maxDepth	1
memberOf	[DefinedSet:R-HSA-9606710] MUTYH-3 E466del,MUTYH-6 E452del [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9606667] Orlic-Milacic, Marija, 2018-04-24
name	MUTYH-3 E466del MUTYH-3 Glu466del MUTYH alpha-3 E466del MUTYH alpha-3 Glu466del
referenceEntity	[ReferenceIsoform:uniprot:Q9UIF7-3] UniProt:Q9UIF7-3 MUTYH
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9606593
startCoordinate	1

(hasMember)

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