Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

MSH6 L222* [nucleoplasm] Show undefined attributes

compartment

[Compartment:7660] nucleoplasm

consumedByEvent

[FailedReaction:R-HSA-5632970] MSH6 variant:MSH2-defective DNA mismatch repair - Homo sapiens

created [InstanceEdit:5632971] Gillespie, Marc E, 2014年10月29日

crossReference

[DatabaseIdentifier:11944899] Mondo:0005575

dbId 5632954

disease

[Disease:4791250] colorectal cancer

displayName MSH6 L222* [nucleoplasm]

endCoordinate 221

hasModifiedResidue

[NonsenseMutation:5632985] Nonsense mutation at L-leucine 222

inDisease true

literatureReference

[LiteratureReference:5632978] Mutations of GTBP in genetically unstable cells

maxDepth 1

modified [InstanceEdit:9964239] D'Eustachio, Peter, 2025年08月20日

name

MSH6 L222*
MSH6 LEU222TER
DNA mismatch repair protein Msh6
MSH6_HUMAN

referenceEntity [ReferenceGeneProduct:uniprot:P52701] UniProt:P52701 MSH6

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-5632954

startCoordinate 1

updateTrackers

Referrals

(updatedInstance)

(input)

[FailedReaction:R-HSA-5632970] MSH6 variant:MSH2-defective DNA mismatch repair

(diseaseEntity)

[EntityFunctionalStatus:5632965] loss_of_function of MSH6 LEU222TER [nucleoplasm]

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