Reactome | MLH1 S252* [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:5444519] Gillespie, Marc E, 2014-05-14
crossReference	[DatabaseIdentifier:12020752] Mondo:0005575
dbId	5444526
disease	[Disease:4791250] colorectal cancer
displayName	MLH1 S252* [nucleoplasm]
endCoordinate	252
hasModifiedResidue	[NonsenseMutation:5444525] Nonsense mutation at L-serine 252
inDisease	true
literatureReference	[LiteratureReference:5444524] Mutation of a mutL homolog in hereditary colon cancer
maxDepth	1
memberOf	[DefinedSet:R-HSA-5444521] MLH1 Variants [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9967511] D'Eustachio, Peter, 2025-09-29
name	MLH1 S252* MLH1 SER252TER DNA mismatch repair protein Mlh1 MLH1_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:P40692] UniProt:P40692 MLH1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5444526
startCoordinate	2
updateTrackers	[UpdateTracker:9972188] Update Tracker - [EntityWithAccessionedSequence:5444526] MLH1 S252* [nucleoplasm] - v95:[modifyStartCoordinate] [UpdateTracker:9900764] Update Tracker - [EntityWithAccessionedSequence:5444526] MLH1 S252* [nucleoplasm] - v70:[addName]

(updatedInstance)	[UpdateTracker:9972188] Update Tracker - [EntityWithAccessionedSequence:5444526] MLH1 S252* [nucleoplasm] - v95:[modifyStartCoordinate] [UpdateTracker:9900764] Update Tracker - [EntityWithAccessionedSequence:5444526] MLH1 S252* [nucleoplasm] - v70:[addName]
(hasMember)	[DefinedSet:R-HSA-5444521] MLH1 Variants [nucleoplasm]

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