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Results 1 - 10 of 11 > >>
EC Number
Amino acid exchange
Commentary
Reference
A209E
the mutation is associated with encephalomyopathic mitochondrial DNA depletion syndrome
E263K
the mutation is associated with encephalomyopathic mitochondrial DNA depletion syndrome
H71R
the mutation is associated with encephalomyopathic mitochondrial DNA depletion syndrome
K46E/K114D
the double mutant shows reduced activity with ATP and high specificity towards GTP compared to the wild type enzyme
K46E/K114D/V113L/L227F
the quadruple mutant shows no activity with ATP and high activity towards GTP compared to the wild type enzyme
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
more
naturally occuring mutation c.113_114delAT causes succinate-CoA ligase deficiency; naturally occuring mutation c.113_114delAT causes succinate-CoA ligase deficiency; 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
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
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; 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
V113L/L227F
the double mutant shows increased activity with ATP compared to the wild type enzyme
Results 1 - 10 of 11 > >>