Variant: rs121964987 

    present in Gene: DLD
    present in Chromosome: 7
    Position on Chromosome: 107902340
    Alleles of this Variant: A/G

rs121964987 in DLD gene and NADH cytochrome B5 reductase deficiency PMID 12925875 2003 Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

PMID 8968745 1996 Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.

PMID 16770810 2006 Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

PMID 15712224 2005 A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

PMID 8506365 1993 Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.

PMID 10448086 1999 Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.

PMID 9540846 1997 Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing.

PMID 16442803 2006 Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.

PMID 17404228 2007 Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.

PMID 20160912 2009 Interaction of E1 and E3 components with the core proteins of the human pyruvate dehydrogenase complex.

PMID 11687750 2002 Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.

PMID 9934985 1999 Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.