Reactome | MUTYH-3 G382D [nucleoplasm]

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MUTYH-3 G382D [nucleoplasm] Show undefined attributes

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9605318] Orlic-Milacic, Marija, 2018-04-09
crossReference	[DatabaseIdentifier:12020963] Mondo:0021055
dbId	9605325
disease	[Disease:9605309] familial adenomatous polyposis [Disease:4791250] colorectal cancer
displayName	MUTYH-3 G382D [nucleoplasm]
endCoordinate	535
hasModifiedResidue	[ReplacedResidue:9605320] glycine 382 replaced with L-aspartic acid
inDisease	true
literatureReference	[LiteratureReference:9605324] Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair [LiteratureReference:9606238] Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations [LiteratureReference:9606250] Insight into the functional consequences of inherited variants of the hMYH adenine glycosylase associated with colorectal cancer: complementation assays with hMYH variants and pre-steady-state kinetics of the corresponding mutated E.coli enzymes [LiteratureReference:9606256] Identification of critical residues required for the mutation avoidance function of human MutY (hMYH) and implications in colorectal cancer [LiteratureReference:9606551] Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer [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 [LiteratureReference:9606741] Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells
maxDepth	1
memberOf	[DefinedSet:R-HSA-9606675] MUTYH-3 G382D,MUTYH-6 G368D [nucleoplasm] - Homo sapiens [DefinedSet:R-HSA-9608300] MUTYH binding LOF mutants [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9606746] Orlic-Milacic, Marija, 2018-04-24
name	MUTYH-3 G382D MUTYH-3 Gly382Asp MUTYH alpha-3 G382D MUTYH alpha-3 Gly382Asp
referenceEntity	[ReferenceIsoform:uniprot:Q9UIF7-3] UniProt:Q9UIF7-3 MUTYH
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9605325
startCoordinate	1

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