Reactome | MUTYH-3 E466* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9606419] Orlic-Milacic, Marija, 2018-04-23
crossReference	[DatabaseIdentifier:12020963] Mondo:0021055 [DatabaseIdentifier:9831617] ClinGen:CA10581802
dbId	9606420
disease	[Disease:9605309] familial adenomatous polyposis [Disease:4791250] colorectal cancer
displayName	MUTYH-3 E466* [nucleoplasm]
endCoordinate	465
hasModifiedResidue	[NonsenseMutation:9606432] Nonsense mutation at L-glutamic acid 466
inDisease	true
literatureReference	[LiteratureReference:9606347] Characterization of mutant MUTYH proteins associated with familial colorectal cancer
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:9831619] Orlic-Milacic, Marija, 2023-03-22
name	MUTYH-3 E466* MUTYH-3 Glu466Ter
referenceEntity	[ReferenceIsoform:uniprot:Q9UIF7-3] UniProt:Q9UIF7-3 MUTYH
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9606420
startCoordinate	1
updateTrackers	[UpdateTracker:9905245] Update Tracker - [EntityWithAccessionedSequence:9606420] MUTYH-3 E466* [nucleoplasm] - v85:[modifyName]

(updatedInstance)	[UpdateTracker:9905245] Update Tracker - [EntityWithAccessionedSequence:9606420] MUTYH-3 E466* [nucleoplasm] - v85:[modifyName]
(hasMember)	[DefinedSet:R-HSA-9608300] MUTYH binding LOF mutants [nucleoplasm] [CandidateSet:R-HSA-9605329] MUTYH LOF mutants [nucleoplasm]

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