EC Number   |
Protein Variants |
Reference |
|---|
    1.3.8.4 | A282V |
enzyme activity detected, 19% relative activity to wild-type |
391212 |
| 1.3.8.4 | A282V |
site-directed mutagenesis, severely affected interaction between enzyme and flavin cofactor, about 40% reduced activity compared to the wild-type enzyme |
654890 |
| 1.3.8.4 | B40N |
has no detectable enzymatic activity |
391212 |
| 1.3.8.4 | C30Y |
isovaleric acidemia is a rare recessive autosomal disorder, caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. Molecular analysis of their IVD gene reveals six mutation profiles: R21H, R363C, H100R, S97F, C30Y and Y371C (common recurring missense mutation) |
676033 |
| 1.3.8.4 | C328R |
has no detectable enzymatic activity |
391212 |
| 1.3.8.4 | E246Q |
site-directed mutagenesis, the recombinant IVDH enzyme mutant is obtained as an apoprotein, the protein is fully reconstituted by incubation with flavin adenine dinucleotide (FAD) at a ratio 1:20 (IVDH: FAD) molar excess. The reconstituted E246Q IVDH has no activity for isovaleryl-CoA. The mutant IVDH is unable to form charge transfer complex as a result of altering catalytic residue E246 |
-, 763557 |
| 1.3.8.4 | E254D |
has residual activity for isovaleryl-CoA, below 0.1% |
391209 |
| 1.3.8.4 | E254G |
has no detectable enzymatic activity |
391209 |
| 1.3.8.4 | E254G |
no activity, mutant enzyme is unable to form a charge-transfer complex with substrate/product. The CD spectra indicate a perturbation of the flavin environment |
676020 |
| 1.3.8.4 | E254G |
site-directed mutagenesis, inactive mutant |
724512 |
