Reactome | M361V DLD [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9907569] DLD mutants [mitochondrial matrix] - Homo sapiens
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9907712] Rothfels, Karen, 2024-04-15
crossReference	[DatabaseIdentifier:12020927] Mondo:0009563 [DatabaseIdentifier:9907704] ClinGen:CA256139
dbId	9907714
disease	[Disease:9865030] maple syrup urine disease
displayName	M361V DLD [mitochondrial matrix]
endCoordinate	509
hasModifiedResidue	[ReplacedResidue:9907646] L-methionine 361 replaced with L-valine
inDisease	true
literatureReference	[LiteratureReference:9907686] Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency
maxDepth	1
name	M361V DLD Dihydrolipoamide dehydrogenase, mitochondrial Glycine cleavage system L protein
referenceEntity	[ReferenceGeneProduct:uniprot:P09622] UniProt:P09622 DLD
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9907714
startCoordinate	36

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