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Details on Person G278S BCKDHB [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9865069
_displayName	G278S BCKDHB [mitochondrial matrix]
_timestamp	2024-03-08 21:47:55
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9865061] Rothfels, Karen, 2024-03-08
crossReference	[DatabaseIdentifier:9865045] ClinGen:CA224347
disease	[Disease:9865030] maple syrup urine disease
endCoordinate	392
hasModifiedResidue	[ReplacedResidue:9865024] glycine 278 replaced with L-serine
literatureReference	[LiteratureReference:9864973] Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population
name	G278S BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
referenceEntity	[ReferenceGeneProduct:60860] UniProt:P21953 BCKDHB [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9865081] R-HSA-9865069.1
startCoordinate	51
(hasCandidate)	[CandidateSet:9865089] BCKDHB mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by G278S BCKDHB [mitochondrial matrix] (9865069)