EC Number   |
Protein Variants |
Reference |
|---|
    1.3.5.1 | A3G |
naturally occurring germline mutation of gene SDHB, phenotype, overview |
684284 |
| 1.3.5.1 | A86H |
FAD is non-covalently attached to SdhA. This is prooved by mutant A86H: in contrast to wild-tpye mutant A86H shows an additional fluorescent band which can be detected after SDS-PAGE |
700278 |
| 1.3.5.1 | A86H |
in wild-type enzyme FAD is non-covalenly-bound. In the enzyme containing a mutant A86H flavoprotein subunit the FAD is covalently bound |
700278 |
| 1.3.5.1 | B89G |
succinate dehydrogenase D polypeptide, the mutation conferrs resistance to carboxin but not to thenoyltrifluoroacetone |
391134 |
| 1.3.5.1 | C184Y |
SDH2C184Y mutant allele equivalent to human SDHBC191Y does not restore the OXPHOS phenotype of the DELTAsdh2 null mutant. In the C184Y mutant, SDH activity is abolished along with a reduction in respiration. Sensitivity to oxidative stress is increased in the mutant, as revealed by reduced growth in the presence of menadione. The frequency of petite colony formation is increased in the C184Y mutant, indicating an increased mtDNA mutability |
698179 |
| 1.3.5.1 | C191Y |
a novel germline missense SDHB mutation (C191Y) in a patient affected by a glomus tumor is reported. The missense mutation hits an amino acid residue conserved from mammals to the yeast Saccharomyces cerevisiae. Histochemistry demonstrates that SDH activity is selectively absent in the patient tumor tissue |
698179 |
| 1.3.5.1 | C247 |
mutation in flavoprotein subunit FrdA. Increase in fumarate reduction rate, slight increase in succinate oxidation. Residue C247 of FrdA is responsible for the N-ethylmaleimide sensitivity shown by fumarate reductase but is not required for catalytic activity or the tight-binding of oxalacetate |
708966 |
| 1.3.5.1 | C630A/R638A |
naturally occuring mutant, overexpression of Sdh5 partially does not restore growth of the double mutant |
725497 |
| 1.3.5.1 | C78A |
mutation in Sdh4 subunit, 94% of wild-type kcat for 2,3-dimethoxy-5-methyl-6-decyl-1,4-benzoquinone reduction |
656276 |
| 1.3.5.1 | C78A |
site-directed mutagenesis of the subunit Sdh4p residue an axial ligand of heme binding, leads to highly reduced to undetectable levels of heme b562 compared to the wild-type enzyme |
685323 |
