Reactome | KMT2D H5059R [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9945024] KMT2D LOF variants (WRAD binding) [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9945065] Orlic-Milacic, Marija, 2025-04-10
crossReference	[DatabaseIdentifier:12020966] Mondo:0016512 [DatabaseIdentifier:9945061] ClinVar:VCV000981667
dbId	9945066
disease	[Disease:9944973] Kabuki syndrome
displayName	KMT2D H5059R [nucleoplasm]
endCoordinate	5537
hasModifiedResidue	[ReplacedResidue:9945067] L-histidine 5059 replaced with L-arginine
inDisease	true
literatureReference	[LiteratureReference:9945005] Dissecting KMT2D missense mutations in Kabuki syndrome patients
maxDepth	1
modified	[InstanceEdit:9946530] Orlic-Milacic, Marija, 2025-04-25
name	KMT2D H5059R MLL4 H5059R KMT2D His5059Arg
referenceEntity	[ReferenceGeneProduct:uniprot:O14686] UniProt:O14686 KMT2D
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9945066
startCoordinate	1

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