Reactome | MUTYH-3 R260W [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9605329] MUTYH LOF mutants [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9606366] Orlic-Milacic, Marija, 2018-04-20
crossReference	[DatabaseIdentifier:12021342] Mondo:0008977 [DatabaseIdentifier:9606365] COSMIC:COSV58343540 [DatabaseIdentifier:9606367] COSMIC:COSV58344176
dbId	9606369
disease	[Disease:9606370] chondrosarcoma [Disease:2328001] skin squamous cell carcinoma [Disease:6802273] skin melanoma
displayName	MUTYH-3 R260W [nucleoplasm]
endCoordinate	535
hasModifiedResidue	[ReplacedResidue:9606368] L-arginine 260 replaced with L-tryptophan
inDisease	true
literatureReference	[LiteratureReference:9606466] Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma [LiteratureReference:9606530] Genomic analysis of metastatic cutaneous squamous cell carcinoma [LiteratureReference:9606531] Mutational landscape of aggressive cutaneous squamous cell carcinoma
maxDepth	1
modified	[InstanceEdit:9606667] Orlic-Milacic, Marija, 2018-04-24
name	MUTYH-3 R260W MUTYH-3 Arg260Trp MUTYH alpha-3 R260W MUTYH alpha-3 Arg260Trp
referenceEntity	[ReferenceIsoform:uniprot:Q9UIF7-3] UniProt:Q9UIF7-3 MUTYH
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9606369
startCoordinate	1

(hasCandidate)

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