EC Number   |
Protein Variants |
Reference |
|---|
   3.1.6.4 | A291D |
mutation associated with attenuated phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, , in wild-type, A291 has a hydrogen bond with K310 |
730366 |
| 3.1.6.4 | A291T |
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking. In wild-type, A291 has a hydrogen bond with K310. Mutation A291T produces a new hydrogen bond with G301 |
730366 |
| 3.1.6.4 | C76S |
active site mutation, results in inactive enzyme |
681953 |
| 3.1.6.4 | C79S |
no enzymatic activity |
651453 |
| 3.1.6.4 | C79T |
no enzymatic activity |
651453 |
| 3.1.6.4 | C79Y |
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking |
730366 |
| 3.1.6.4 | F97V |
10fold decrease in enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible |
651453 |
| 3.1.6.4 | G155R |
no enzymatic activity, no mature polypeptide chain and precursor polypeptide is faintly visible |
651453 |
| 3.1.6.4 | G168R |
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking |
730366 |
| 3.1.6.4 | G290S |
mutation associated with a severe phenotype of lysosomal storage disease Mucopolysaccharidosis IV A, modeling of energy minimization and affinity energy after docking |
730366 |
