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Details on Person G290R BCKDHA [mitochondrial matrix]

Class:IdEntityWithAccessionedSequence:9865040
_displayNameG290R BCKDHA [mitochondrial matrix]
_timestamp2024-03-08 21:47:55
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9865061] Rothfels, Karen, 2024-03-08
crossReference[DatabaseIdentifier:9865049] ClinGen:CA115508
[DatabaseIdentifier:9865048] ClinGen:CA9461293
disease[Disease:9865030] maple syrup urine disease
endCoordinate445
hasModifiedResidue[ReplacedResidue:9865015] glycine 290 replaced with L-asparagine
literatureReference[LiteratureReference:70020] Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.
[LiteratureReference:9864956] Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease
[LiteratureReference:9864978] Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients
nameG290R BCKDHA
branched chain keto acid dehydrogenase E1, alpha polypeptide
referenceEntity[ReferenceGeneProduct:60858] UniProt:P12694 BCKDHA [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9865076] R-HSA-9865040.1
startCoordinate46
(hasMember)[DefinedSet:9865095] BCKDHA mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by G290R BCKDHA [mitochondrial matrix] (9865040)
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