6.2.1.4 A209E the mutation is associated with encephalomyopathic mitochondrial DNA depletion syndrome 745500 6.2.1.4 E263K the mutation is associated with encephalomyopathic mitochondrial DNA depletion syndrome 745500 6.2.1.4 H71R the mutation is associated with encephalomyopathic mitochondrial DNA depletion syndrome 745500 6.2.1.4 K46E/K114D the double mutant shows reduced activity with ATP and high specificity towards GTP compared to the wild type enzyme -, 744369 6.2.1.4 K46E/K114D/V113L/L227F the quadruple mutant shows no activity with ATP and high activity towards GTP compared to the wild type enzyme -, 744369 6.2.1.4 additional information construction of a conditional knock-out mutant for the succinyl-CoA synthetase ScsA, depletion mutant displays a 30% reduction in growth rate, which can be restored by supplementation with 0.002 mM succinate in the tissue culture medium, the mitochondrial membrane potential in these parasites is unaltered, lack of a more severe phenotype, overview 687185 6.2.1.4 additional information naturally occuring mutation c.113_114delAT causes succinate-CoA ligase deficiency 693488 6.2.1.4 additional information the GDP-dependent isozyme SUCLG2, EC 6.2.1.5, can complement the SUCLA2-related mitochondrial DNA depletion syndrome, a result of mutations in the beta subunit of the ADP-dependent isoform SUCLA2, EC 6.2.1.4 714342 6.2.1.4 additional information the severe disorder in patients with SUCLG1 mutations is likely caused by the absence of both ASUCL and G-SUCL, and thereby a compromised formation of both ATP and GTP. Severe lactic acidosis is found in patients with SUCLG1 mutations, phenotype, overview 693488 6.2.1.4 additional information transposon mutagenesis and deletion of gene sucCD, accumulation of 3SP during 3,3'-dithiodipropionic acid degradation occurs in Tn5::mob-induced mutants of Advenella mimigardefordensis strain DPN7T disrupted in sucCD and in the defined deletion mutant Advenella mimigardefordensis DELTAsucCD -, 715381