EC Number   |
Protein Variants |
Reference |
|---|
    3.1.2.22 | G250V |
naturally occurring mutation, recombinant enzyme shows 5.9% of the wild-type activity, mutation is associated with the juvenile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor |
651450 |
| 3.1.2.22 | G42E |
naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor |
651450 |
| 3.1.2.22 | H289A |
site-directed mutagenesis, inactive mutant |
653651 |
| 3.1.2.22 | H39Q |
naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor |
651450 |
| 3.1.2.22 | L219Q |
naturally occurring mutation, mutation is associated with the late onset form of infantile neuronal ceroid lipofuscinosis, the mutant enzymes shows minor altered intracellular localization in transfected cells and are localized in the presynaptic space and neuronal shaft, about 10fold reduced activity |
653226 |
| 3.1.2.22 | more |
naturally occurring mutations delPhe84 and insCys45, mutation is associated with the late onset form of infantile neuronal ceroid lipofuscinosis, the mutant enzymes shows severely altered intracellular localization in transfected cells and are targeted to the endoplasmic reticulum, about 10fold reduced activity |
653226 |
| 3.1.2.22 | more |
residues involved in ligand binding differ between PPT1 and PPT2, exchange by site-directed mutagenesis and functional analysis, overview |
652459 |
| 3.1.2.22 | more |
several naturally occurring mutations of alleles 1 and 2 from enzyme deficient patients shows reduced activity compred with the wild-type, overview |
651450 |
| 3.1.2.22 | N197Q |
site-directed mutagenesis, mutation of a glycosylation site, slightly reduced activity |
653651 |
| 3.1.2.22 | N197Q/N212Q |
site-directed mutagenesis, mutation of glycosylation sites, slightly reduced activity, mutant shows 10% of the wild-type expression level |
653651 |
