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Details on Person MUTYH-3 G382D [nucleoplasm]

Class:Id	EntityWithAccessionedSequence:9605325
_displayName	MUTYH-3 G382D [nucleoplasm]
_timestamp	2018-04-24 20:20:43
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9605318] Orlic-Milacic, Marija, 2018-04-09
disease	[Disease:9605309] familial adenomatous polyposis [Disease:4791250] colorectal cancer
endCoordinate	535
hasModifiedResidue	[ReplacedResidue:9605320] glycine 382 replaced with L-aspartic acid
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
modified	[InstanceEdit:9606197] Orlic-Milacic, Marija, 2018-04-19 [InstanceEdit:9606268] Orlic-Milacic, Marija, 2018-04-20 [InstanceEdit:9606272] Orlic-Milacic, Marija, 2018-04-20 [InstanceEdit:9606274] Orlic-Milacic, Marija, 2018-04-20 [InstanceEdit:9606563] Orlic-Milacic, Marija, 2018-04-23 [InstanceEdit:9606576] Orlic-Milacic, Marija, 2018-04-23 [InstanceEdit:9606607] Orlic-Milacic, Marija, 2018-04-24 [InstanceEdit:9606667] Orlic-Milacic, Marija, 2018-04-24 [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:150746] UniProt:Q9UIF7-3 MUTYH [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9605326] R-HSA-9605325.1
startCoordinate	1
(hasMember)	[DefinedSet:9606675] MUTYH-3 G382D,MUTYH-6 G368D [nucleoplasm] [Homo sapiens] [DefinedSet:9608300] MUTYH binding LOF mutants [nucleoplasm] [Homo sapiens]
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No pathways have been reviewed or authored by MUTYH-3 G382D [nucleoplasm] (9605325)