Reactome | MUTYH-3 A359V [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9606315] Orlic-Milacic, Marija, 2018-04-20
dbId	9606316
disease	[Disease:9605309] familial adenomatous polyposis [Disease:4791250] colorectal cancer
displayName	MUTYH-3 A359V [nucleoplasm]
endCoordinate	535
hasModifiedResidue	[ReplacedResidue:9606317] L-alanine 359 replaced with L-valine
inDisease	true
literatureReference	[LiteratureReference:9606302] Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis
memberOf	[CandidateSet:R-HSA-9605329] MUTYH LOF mutants [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9606667] Orlic-Milacic, Marija, 2018-04-24
name	MUTYH-3 A359V MUTYH-3 Ala359Val MUTYH alpha-3 A359V MUTYH alpha-3 Ala359Val
referenceEntity	[ReferenceIsoform:150746] UniProt:Q9UIF7-3 MUTYH
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9606316
startCoordinate	1

(hasMember)

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