Cloned (Comment) | Organism |
---|---|
expression of wild-type and mutant enzymes in BHK or CHO cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
G191R | mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity | Homo sapiens |
L163P | mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity | Homo sapiens |
R233X | mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity | Homo sapiens |
R433W | mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity | Homo sapiens |
R74C | mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity | Homo sapiens |
S106R | mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows 3.3% of wild-type activity | Homo sapiens |
Y403del | mutation identified in children with mucopolysaccharidosis type IIIA in Germany. Recombinant mutant enzyme shows no activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P51688 | - |
- |