Reactome | I98M Lipo-K105-DBT [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9865061] Rothfels, Karen, 2024-03-08
crossReference	[DatabaseIdentifier:12020927] Mondo:0009563 [DatabaseIdentifier:9865042] ClinGen:CA121802
dbId	9865057
disease	[Disease:9865030] maple syrup urine disease
displayName	I98M Lipo-K105-DBT [mitochondrial matrix]
endCoordinate	482
hasModifiedResidue	[ModifiedResidue:508256] N6-lipoyl-L-lysine at 105 [ReplacedResidue:9865012] L-isoleucine 98 replaced with L-methionine
inDisease	true
literatureReference	[LiteratureReference:9864983] Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex [LiteratureReference:9864942] Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease
maxDepth	1
memberOf	[CandidateSet:R-HSA-9865090] DBT mutants [mitochondrial matrix] - Homo sapiens
name	I98M 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-9865057
startCoordinate	62

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