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Details on Person N176Y BCKDHB [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9865063
_displayName	N176Y 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:9865070] ClinGen:CA224309
disease	[Disease:9865030] maple syrup urine disease
endCoordinate	392
hasModifiedResidue	[ReplacedResidue:9865021] L-asparagine 176 replaced with L-tyrosine
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:9865002] Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease
name	N176Y BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
referenceEntity	[ReferenceGeneProduct:60860] UniProt:P21953 BCKDHB [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9865075] R-HSA-9865063.1
startCoordinate	51
(hasMember)	[CandidateSet:9865089] BCKDHB mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by N176Y BCKDHB [mitochondrial matrix] (9865063)