EC Number   |
Protein Variants |
Reference  |
|---|
   4.4.1.17 | DELTA197-268 |
mutation identified in female patient with microphthalmia with linear skin defects syndrome. In contrast to wild-type, mutant protein is unable to complement a Saccharomyces cerevisiae mutant deficient in the yeast enzyme ortholog. Upon expression in CHO-K1 cells, mutant protein fails to be sorted to mitochondria. Mutation results in disturbance of both oxidative phosphorylation and the balance between apoptosis and necrosis |
677440 |
| 4.4.1.17 | R217C |
mutation identified in female patient with microphthalmia with linear skin defects syndrome. In contrast to wild-type, mutant protein is unable to complement a Saccharomyces cerevisiae mutant deficient in the yeast enzyme ortholog. Mutation results in disturbance of both oxidative phosphorylation and the balance between apoptosis and necrosis |
677440 |
| 4.4.1.17 | more |
in enzyme deletion mutant, maturation of c-type cytochromes produced under fumarate- and nitrate-respiring conditions is not affected. The mutant grows normally by respiratory nitrate ammonification with formate as electron donor. Cytochrome c protein MccA is not detectable by heme staining in mutant cells from stationary growth phase. In exponential growth phase, reduced amounts of transiently formed MccA are detectable |
682001 |
| 4.4.1.17 | E159A |
site-directed mutagenesis of a domain II residue, the mutant shows altered heme binding compared to the wild-type enzyme |
729264 |
| 4.4.1.17 | E159D |
site-directed mutagenesis of a domain II residue, the mutant shows altered heme binding compared to the wild-type enzyme |
729264 |
| 4.4.1.17 | E159K |
site-directed mutagenesis of a domain II residue, the mutant shows altered heme binding compared to the wild-type enzyme |
729264 |
| 4.4.1.17 | M130A |
site-directed mutagenesis of a domain I residue, the mutant shows altered heme binding compared to the wild-type enzyme |
729264 |
| 4.4.1.17 | more |
the mutants show altered heme binding with and/or without presence of cytochrome c, overview |
729264 |
| 4.4.1.17 | N128A |
site-directed mutagenesis of a domain I residue, the mutant shows altered heme binding compared to the wild-type enzyme |
729264 |
| 4.4.1.17 | N128A/M130A |
site-directed mutagenesis of domain I residues, the mutant shows altered heme binding compared to the wild-type enzyme |
729264 |
