EC Number   |
Protein Variants |
Reference |
|---|
    2.7.1.6 | A198V |
a loss of stability and function is predicted by molecular docking and simulation modeling |
759539 |
| 2.7.1.6 | A198V |
GALK variant associated with an A198V mutation in three infants with mild GALK deficiency. Km-values from healthy and mutant individuals are similar. The variant A198V probably originates in Japanese and Korean ancestors and is one of the genetic factors that cause cataract in elderly individuals |
641726 |
| 2.7.1.6 | A198V |
very similar kinetic parameters to the wild-type enzyme |
641728 |
| 2.7.1.6 | A384P |
mutant enzyme is not present in the soluble fraction after sonication and can not be purified |
641728 |
| 2.7.1.6 | C32M |
mutant enzyme is not present in the soluble fraction after sonication and can not be purified |
641728 |
| 2.7.1.6 | D183A |
inactive |
738227 |
| 2.7.1.6 | D183N |
inactive |
738227 |
| 2.7.1.6 | D186A |
residue D186 interacts with galactose, possible catalytic residue, no activity of mutant enzyme |
704761 |
| 2.7.1.6 | D186E |
residue D186 interacts with galactose, possible catalytic residue, no activity of mutant enzyme |
704761 |
| 2.7.1.6 | D186N |
residue D186 interacts with galactose, possible catalytic residue, no activity of mutant enzyme |
704761 |
