Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

MLH1 S252* [nucleoplasm] Show undefined attributes

compartment

[Compartment:7660] nucleoplasm

created [InstanceEdit:5444519] Gillespie, Marc E, 2014年05月14日

crossReference

[DatabaseIdentifier:11944899] 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:9646281] Rothfels, Karen, 2019年05月21日

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 1

updateTrackers

[UpdateTracker:9900764] Update Tracker - [EntityWithAccessionedSequence:5444526] MLH1 S252* [nucleoplasm] - v70:[addName]

Referrals

(updatedInstance)

[UpdateTracker:9900764] Update Tracker - [EntityWithAccessionedSequence:5444526] MLH1 S252* [nucleoplasm] - v70:[addName]

(hasMember)

[DefinedSet:R-HSA-5444521] MLH1 Variants [nucleoplasm]

© 2025 Reactome

Cite Us!