EC Number   |
Protein Variants |
Reference |
|---|
    4.2.1.2 | A117P |
missense mutation |
696982 |
| 4.2.1.2 | A227V |
3.3-fold improvement of half-life at 50°C and a 3.6°C increase in temperature at which the activity of enzyme decreases by 50% in 15 min compared to the wild-type enzyme |
-, 747671 |
| 4.2.1.2 | A227V/A411V |
half-life at 50°C and temperature at which the activity of enzyme decreases by 50% in 15 min increases to more than 768 min and 52.4°C, respectively |
-, 747671 |
| 4.2.1.2 | A227V/A411V/E175K |
half-life at 50°C increases to more than 2700 min and the temperature at which the activity of enzyme decreases by 50% in 15 min is 9.8°C higher than the wild-type enzyme |
-, 747671 |
| 4.2.1.2 | A239T |
missense mutation |
696982 |
| 4.2.1.2 | A274T |
missense mutation |
696982 |
| 4.2.1.2 | A308T |
mutation associated with fumarate hydratase deficiency and hereditary leiomyomatosis and renal cell cancer. Enzyme shows severely diminished fumarase activity, and the variant is largely defective due to decreased turnover rate, while displaying Km values for L-malate similar to wild-type. The protein forms homodimers rather than homotetramers |
748801 |
| 4.2.1.2 | A308Y |
the mutation is associated with fumarase deficiency |
696982 |
| 4.2.1.2 | A347S |
mutation results in an increase in optimum temperature of 10°C and a fourfold enhancement in specific activity |
677760 |
| 4.2.1.2 | A385D |
missense mutation |
696982 |
