EC Number   |
Protein Variants |
Reference |
|---|
   3.1.6.13 | A85T |
mutation identified in patient with mucopolysaccharidosis type II, attenuated phenotype. 1.2% residual activity, presence of both the precursor form and processed form of enzyme |
681229 |
| 3.1.6.13 | C84A |
loss of activity in mutant |
135578 |
| 3.1.6.13 | C84S |
artificial mutation in predicted active site. No enzymic acitivity, presence of both the precursor form and processed form of enzyme |
681229 |
| 3.1.6.13 | C84T |
artificial mutation in predicted active site. No enzymic acitivity, presence of both the precursor form and processed form of enzyme |
681229 |
| 3.1.6.13 | C84T |
loss of activity in mutant |
135578 |
| 3.1.6.13 | D148N |
mutation identified in patient with mucopolysaccharidosis II |
681228 |
| 3.1.6.13 | D148V |
the mutation perturbs the structure or molecular interactions of the enzyme, leading to loss of enzyme activity and severe phenotype of disease |
699379 |
| 3.1.6.13 | D269V |
mutation identified in patient with mucopolysaccharidosis II |
681228 |
| 3.1.6.13 | D69V |
mutation identified in patient with mucopolysaccharidosis II |
681228 |
| 3.1.6.13 | E254X |
the mutation produces truncated protein lacking 54% of the IDS protein, which leads to severe clinical presentations |
699379 |
