Reactome | K313_Y338del Lipo-K105-DBT [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9865090] DBT mutants [mitochondrial matrix] - Homo sapiens
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9865061] Rothfels, Karen, 2024-03-08
crossReference	[DatabaseIdentifier:12020927] Mondo:0009563 [DatabaseIdentifier:9865050] ClinGen:CA212932
dbId	9865051
disease	[Disease:9865030] maple syrup urine disease
displayName	K313_Y338del Lipo-K105-DBT [mitochondrial matrix]
endCoordinate	482
hasModifiedResidue	[ModifiedResidue:508256] N6-lipoyl-L-lysine at 105 [FragmentDeletionModification:9865027] Deletion of residues 313 to 338
inDisease	true
literatureReference	[LiteratureReference:9864963] Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region
maxDepth	1
name	K313_Y338del Lipo-K105-DBT dihydrolipoamide branched chain transacylase E2 DBT
referenceEntity	[ReferenceGeneProduct:uniprot:P11182] UniProt:P11182 DBT
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9865051
startCoordinate	62

(hasCandidate)

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