EC Number   |
Protein Variants |
Reference |
|---|
    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 | more |
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 | more |
naturally occuring mutation c.113_114delAT causes succinate-CoA ligase deficiency |
693488 |
| 6.2.1.4 | more |
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 | more |
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 | more |
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 |
