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Query author contributions in Reactome

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Details on Person I98M Lipo-K105-DBT [mitochondrial matrix]

Class:IdEntityWithAccessionedSequence:9865057
_displayNameI98M Lipo-K105-DBT [mitochondrial matrix]
_timestamp2024-03-08 21:47:55
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9865061] Rothfels, Karen, 2024-03-08
crossReference[DatabaseIdentifier:9865042] ClinGen:CA121802
disease[Disease:9865030] maple syrup urine disease
endCoordinate482
hasModifiedResidue[ModifiedResidue:508256] N6-lipoyl-L-lysine at 105
[ReplacedResidue:9865012] L-isoleucine 98 replaced with L-methionine
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
nameI98M Lipo-K105-DBT
dihydrolipoamide branched chain transacylase E2
DBT
referenceEntity[ReferenceGeneProduct:60856] UniProt:P11182 DBT [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9865074] R-HSA-9865057.1
startCoordinate62
(hasMember)[CandidateSet:9865090] DBT mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by I98M Lipo-K105-DBT [mitochondrial matrix] (9865057)
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