Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

KMT2D T5098P [nucleoplasm] Show undefined attributes

compartment

[Compartment:7660] nucleoplasm

created [InstanceEdit:9946429] Orlic-Milacic, Marija, 2025年04月24日

crossReference

[DatabaseIdentifier:11945102] Mondo:0016512

dbId 9946431

disease

[Disease:9944973] Kabuki syndrome

displayName KMT2D T5098P [nucleoplasm]

endCoordinate 5537

hasModifiedResidue

[ReplacedResidue:9946433] L-threonine 5098 replaced with L-proline

inDisease true

literatureReference

[LiteratureReference:9945005] Dissecting KMT2D missense mutations in Kabuki syndrome patients

maxDepth 1

memberOf

[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] - Homo sapiens

modified [InstanceEdit:9946530] Orlic-Milacic, Marija, 2025年04月25日

name

KMT2D T5098P
MLL4 T5098P
KMT2D Thr5098Pro

referenceEntity [ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9946431

startCoordinate 1

Referrals

(hasMember)

[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm]

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