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Query author contributions in Reactome

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Details on Person Q346R BCKDHB [mitochondrial matrix]

Class:IdEntityWithAccessionedSequence:9865060
_displayNameQ346R BCKDHB [mitochondrial matrix]
_timestamp2024-03-08 21:47:55
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9865061] Rothfels, Karen, 2024-03-08
crossReference[DatabaseIdentifier:9865039] ClinGen:CA365009409
disease[Disease:9865030] maple syrup urine disease
endCoordinate392
hasModifiedResidue[ReplacedResidue:9865026] L-glutamine 346 replaced with L-arginine
literatureReference[LiteratureReference:9865006] Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD)
nameQ346R BCKDHB
branched chain keto acid dehydrogenase E1, beta polypeptide
referenceEntity[ReferenceGeneProduct:60860] UniProt:P21953 BCKDHB [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9865084] R-HSA-9865060.1
startCoordinate51
(hasCandidate)[CandidateSet:9865089] BCKDHB mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by Q346R BCKDHB [mitochondrial matrix] (9865060)
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