EC Number   |
Protein Variants |
Reference |
|---|
    3.2.1.48 | C1229Y |
heterozygous mutation within the sucrose domain, found in patients with congenital sucrase-isomaltase deficiency. Recombinant mutant protein is transported only to the Golgi apparatus. Isomaltase activity is not affected by the mutation |
698080 |
| 3.2.1.48 | D1394E |
about 95% decrease in hydrolysis of sucrose, about 50% decrease in hydrolysis of maltose, about 20% decrease in hydrolysis of isomaltulose |
751091 |
| 3.2.1.48 | D1394E |
site-directed mutagenesis of a catalytic residue, the mutant shows reduced maltase activity compared to wild-type |
751091 |
| 3.2.1.48 | D1500E |
site-directed mutagenesis of a catalytic residue, the mutant shows reduced maltase activity compared to wild-type |
751091 |
| 3.2.1.48 | D1500N |
about 95% decrease in hydrolysis of sucrose, about 40% decrease in hydrolysis of maltose, about 5% decrease in hydrolysis of isomaltulose |
751091 |
| 3.2.1.48 | D1500N |
about 95% decrease in hydrolysis of sucrose, about 45% decrease in hydrolysis of maltose, about 10% increase in hydrolysis of isomaltulose |
751091 |
| 3.2.1.48 | D1500N |
site-directed mutagenesis of a catalytic residue, the mutant shows reduced maltase activity compared to wild-type |
751091 |
| 3.2.1.48 | D1500S |
site-directed mutagenesis of a catalytic residue, the mutant shows reduced maltase activity compared to wild-type |
751091 |
| 3.2.1.48 | D1500Y |
about 95% decrease in hydrolysis of sucrose, about 35% decrease in hydrolysis of maltose, about 10% increase in hydrolysis of isomaltulose |
751091 |
| 3.2.1.48 | D1500Y |
site-directed mutagenesis of a catalytic residue, the mutant shows reduced maltase activity compared to wild-type |
751091 |
