EC Number   |
Protein Variants |
Reference |
|---|
   6.1.1.14 | A57V |
found in a screen of 33 patients |
706875 |
| 6.1.1.14 | C157R |
the activity of the mutant enzyme is 62% of wild type |
745358 |
| 6.1.1.14 | D500N |
disease phenotype CMT2D/dSMA-V |
706875 |
| 6.1.1.14 | D500N |
naturally occuring mutation in the catalytic domain, the mutation lies in the disordered insertion III and causes Charcot-Marie-Tooth peripheral neuropathies |
676881 |
| 6.1.1.14 | E71G |
disease phenotype CMT2D/dSMA-V |
706875 |
| 6.1.1.14 | E71G |
modeled in yeast the mutation causes growth defects and impaired viability |
675540 |
| 6.1.1.14 | E71G |
naturally occuring mutation in the catalytic domain, the mutation lies in a conserved region and causes Charcot-Marie-Tooth peripheral neuropathies |
676881 |
| 6.1.1.14 | E71G |
the mutant shows increased activity compared to the wild type enzyme |
745302 |
| 6.1.1.14 | E71G |
the mutant shows slightly elevated aminoacylation activity over wild type |
745358 |
| 6.1.1.14 | E71G/C157R |
the activity of the mutant enzyme is 20% of wild type |
745358 |
