EC Number   |
Protein Variants |
Reference |
|---|
    2.5.1.22 | DELTA1-82 |
0.00023% activity compared to the wild-type enzyme |
692270 |
| 2.5.1.22 | DELTA347-366 |
truncation of the protein at position 346 removing the last 20 residues lead to a complete loss of activity |
692270 |
| 2.5.1.22 | DELTA358-366A |
smaller truncation of only 9 residues has a smaller effect but still reduced activity by 75% |
692270 |
| 2.5.1.22 | E353Q |
1000fold decrease in ratio kcat/Km value |
687717 |
| 2.5.1.22 | E353Q |
mutation of Glu353 to Gln reduces the kcat/Km by 800fold |
692270 |
| 2.5.1.22 | F58L |
the mutation is associated with the Snyder-Robinson syndrome |
738421 |
| 2.5.1.22 | G191S |
the mutation at a site far away from the active pocket affects the active site dynamics and thus the functionality of SpmSyn. This suggests that SpmSyn functionality is regulated by networks of interacting residues and thus expands the functional and structural importance beyond the amino acids directly involved in the catalysis |
759684 |
| 2.5.1.22 | G56S |
naturally occuring missense mutation involved in Snyder-Robinson Syndrome, the mutation affects dimer and monomer stability and perturb the hydrogen bond network of the functionally important amino acids |
723531 |
| 2.5.1.22 | G56S |
point mutation, leads to a large loss of spermine synthase activity, an inability to form dimers |
708060 |
| 2.5.1.22 | G56S |
the mutation destabilizes the enzyme homodimer and thus abolishes enzymatic activity |
739497 |
