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Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

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Details on Person S399C Lipo-K105-DBT [mitochondrial matrix]

Class:IdEntityWithAccessionedSequence:9865036
_displayNameS399C Lipo-K105-DBT [mitochondrial matrix]
_timestamp2024-08-18 16:54:43
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9865061] Rothfels, Karen, 2024-03-08
crossReference[DatabaseIdentifier:9865038] ClinGen:CA341330329
disease[Disease:9865030] maple syrup urine disease
endCoordinate482
hasModifiedResidue[ModifiedResidue:508256] N6-lipoyl-L-lysine at 105
[ReplacedResidue:9865022] L-serine 399 replaced with L-cysteine
literatureReference[LiteratureReference:9864954] Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population
modified[InstanceEdit:9918913] Rothfels, Karen, 2024-08-18
nameS399C Lipo-K105-DBT
dihydrolipoamide branched chain transacylase E2
DBT
referenceEntity[ReferenceGeneProduct:60856] UniProt:P11182 DBT [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9865077] R-HSA-9865036.1
startCoordinate62
summation[Summation:9918898] comment - no classification in ClinVar
(hasCandidate)[CandidateSet:9865090] DBT mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by S399C Lipo-K105-DBT [mitochondrial matrix] (9865036)