EC Number   |
Protein Variants |
Reference |
|---|
   3.1.6.12 | C117R |
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, severe phenotype |
655699 |
| 3.1.6.12 | C192R |
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, mild phenotype |
655699 |
| 3.1.6.12 | C405Y |
associated with the attenuated phenotype of mucopolysaccharidosis type VI |
681960 |
| 3.1.6.12 | C405Y |
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, second mutation L236P, mild phenotype |
655699 |
| 3.1.6.12 | C447F |
associated with the severe phenotype of mucopolysaccharidosis type VI |
681960 |
| 3.1.6.12 | C447F |
mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability |
694195 |
| 3.1.6.12 | C447S |
associated with the severe phenotype of mucopolysaccharidosis type VI |
681960 |
| 3.1.6.12 | C521Y |
causes large structural changes, associated with the severe phenotype of mucopolysaccharidosis type VI |
681960 |
| 3.1.6.12 | C521Y |
mutation in the arylsulfatase B gene responsible for mucopolysaccharidosis, homozygous, severe phenotype. Second mutation R152W, intermediate phenotype |
655699 |
| 3.1.6.12 | C53S |
the mutation causes ASB-deficiency, phenoytpe, overview. The enzyme is taken up into cultured ASB-deficient human fibroblasts, GM00519 cells, and translocates to the lysosomes, it is catalytically active. The enzyme enters target cells predominantly through the CI-M6P receptor. The uptake of rhASB is able to restore lysosomal function in an in vitro cell-based assay |
707109 |
