Reactome | NTHL1 D239Y [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
componentOf	[Complex:R-HSA-9630235] NTHL1 D239Y:Tg-dsDNA [nucleoplasm] - Homo sapiens
created	[InstanceEdit:9630035] Orlic-Milacic, Marija, 2018-11-27
crossReference	[DatabaseIdentifier:12020745] Mondo:0004992
dbId	9630033
disease	[Disease:1500689] cancer
displayName	NTHL1 D239Y [nucleoplasm]
endCoordinate	304
hasModifiedResidue	[ReplacedResidue:9630038] L-aspartic acid 239 replaced with L-tyrosine
inDisease	true
literatureReference	[LiteratureReference:9630031] Germ-line variant of human NTH1 DNA glycosylase induces genomic instability and cellular transformation
maxDepth	1
modified	[InstanceEdit:9967561] D'Eustachio, Peter, 2025-09-30
name	NTHL1 D239Y NTHL1 Asp239Tyr
referenceEntity	[ReferenceGeneProduct:uniprot:P78549] UniProt:P78549 NTHL1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9630033
startCoordinate	23
updateTrackers	[UpdateTracker:9972489] Update Tracker - [EntityWithAccessionedSequence:9630033] NTHL1 D239Y [nucleoplasm] - v95:[modifyEndCoordinate, modifyStartCoordinate]

(updatedInstance)	[UpdateTracker:9972489] Update Tracker - [EntityWithAccessionedSequence:9630033] NTHL1 D239Y [nucleoplasm] - v95:[modifyEndCoordinate, modifyStartCoordinate]
(hasComponent)	[Complex:R-HSA-9630235] NTHL1 D239Y:Tg-dsDNA [nucleoplasm] [Complex:R-HSA-9630232] NTHL1 D239Y:DHU-dsDNA [nucleoplasm]

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