Reactome | NTHL1 Q90* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9630217] NTHL1 truncation mutants [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9629973] Orlic-Milacic, Marija, 2018-11-26
crossReference	[DatabaseIdentifier:12020963] Mondo:0021055
dbId	9629974
disease	[Disease:9605309] familial adenomatous polyposis [Disease:4791250] colorectal cancer
displayName	NTHL1 Q90* [nucleoplasm]
endCoordinate	89
hasModifiedResidue	[NonsenseMutation:9827819] Nonsense mutation at L-glutamine 90
inDisease	true
literatureReference	[LiteratureReference:9629985] A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
maxDepth	1
modified	[InstanceEdit:9967561] D'Eustachio, Peter, 2025-09-30
name	NTHL1 Q90* NTHL1 Gln90* NTHL1 Q90TER NTHL1 Gln90Ter
referenceEntity	[ReferenceGeneProduct:uniprot:P78549] UniProt:P78549 NTHL1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9629974
startCoordinate	23
updateTrackers	[UpdateTracker:9905076] Update Tracker - [EntityWithAccessionedSequence:9629974] NTHL1 Q90* [nucleoplasm] - v84:[addHasModifiedResidue] [UpdateTracker:9972251] Update Tracker - [EntityWithAccessionedSequence:9629974] NTHL1 Q90* [nucleoplasm] - v95:[modifyStartCoordinate]

(updatedInstance)	[UpdateTracker:9905076] Update Tracker - [EntityWithAccessionedSequence:9629974] NTHL1 Q90* [nucleoplasm] - v84:[addHasModifiedResidue] [UpdateTracker:9972251] Update Tracker - [EntityWithAccessionedSequence:9629974] NTHL1 Q90* [nucleoplasm] - v95:[modifyStartCoordinate]
(hasCandidate)	[CandidateSet:R-HSA-9630217] NTHL1 truncation mutants [nucleoplasm]

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