Reactome | PMS2 R134* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:5632971] Gillespie, Marc E, 2014-10-29
crossReference	[DatabaseIdentifier:12020752] Mondo:0005575
dbId	5632982
disease	[Disease:4791250] colorectal cancer
displayName	PMS2 R134* [nucleoplasm]
endCoordinate	133
hasModifiedResidue	[NonsenseMutation:5632952] Nonsense mutation at L-arginine 134
inDisease	true
literatureReference	[LiteratureReference:5632960] The molecular basis of Turcot's syndrome
maxDepth	1
memberOf	[DefinedSet:R-HSA-5632957] PMS2 Variants [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9967511] D'Eustachio, Peter, 2025-09-29
name	PMS2 R134* PMS2 ARG134TER Mismatch repair endonuclease PMS2 ecNumber3.1.-.-/ecNumber PMS2_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:P54278] UniProt:P54278 PMS2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5632982
startCoordinate	1
updateTrackers	[UpdateTracker:9900640] Update Tracker - [EntityWithAccessionedSequence:5632982] PMS2 R134* [nucleoplasm] - v70:[addName] [UpdateTracker:9972458] Update Tracker - [EntityWithAccessionedSequence:5632982] PMS2 R134* [nucleoplasm] - v95:[modifyEndCoordinate]

(updatedInstance)	[UpdateTracker:9900640] Update Tracker - [EntityWithAccessionedSequence:5632982] PMS2 R134* [nucleoplasm] - v70:[addName] [UpdateTracker:9972458] Update Tracker - [EntityWithAccessionedSequence:5632982] PMS2 R134* [nucleoplasm] - v95:[modifyEndCoordinate]
(hasMember)	[DefinedSet:R-HSA-5632957] PMS2 Variants [nucleoplasm]

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