Reactome | OGG1 R154H [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9657147] Orlic-Milacic, Marija, 2019-08-07
crossReference	[DatabaseIdentifier:12020745] Mondo:0004992
dbId	9657145
disease	[Disease:1500689] cancer
displayName	OGG1 R154H [nucleoplasm]
endCoordinate	345
hasModifiedResidue	[ReplacedResidue:9657146] L-arginine 154 replaced with L-histidine
inDisease	true
literatureReference	[LiteratureReference:9657125] Effect of single mutations in the OGG1 gene found in human tumors on the substrate specificity of the Ogg1 protein [LiteratureReference:5635975] Structural basis for recognition and repair of the endogenous mutagen 8-oxoguanine in DNA [LiteratureReference:9658493] The R46Q, R131Q and R154H polymorphs of human DNA glycosylase/beta-lyase hOgg1 severely distort the active site and DNA recognition site but do not cause unfolding
maxDepth	1
memberOf	[CandidateSet:R-HSA-9657137] OGG1 mutants (FapyG hydrolysis) [nucleoplasm] - Homo sapiens [CandidateSet:R-HSA-9656300] OGG1 mutants (8oxoG hydrolysis) [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9658496] Orlic-Milacic, Marija, 2019-08-15
name	OGG1 R154H OGG1 Arg154His
referenceEntity	[ReferenceGeneProduct:uniprot:O15527] UniProt:O15527 OGG1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9657145
startCoordinate	1

(hasMember)

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