EC Number   |
Protein Variants |
Reference |
|---|
    2.4.2.8 | A192V |
naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia |
705996 |
| 2.4.2.8 | A64P |
naturally occuring mutation of HPRT1 gene, causes the Lesch-Nyhan syndrome |
705996 |
| 2.4.2.8 | A72G |
site-directed mutagenesis, exchange in diphosphate binding site, decreased Km-value for diphosphate and guanine, increased Km-value for 5-phosphoribosyl 1-diphosphate, reduced activity |
638415 |
| 2.4.2.8 | C105A |
prepared via splicing by overlap extension, reduced oxidation ofthe enzyme during storage |
638414 |
| 2.4.2.8 | C205A |
prepared via splicing by overlap extension, reduced oxidation ofthe enzyme during storage |
638414 |
| 2.4.2.8 | C22A |
prepared via splicing by overlap extension, reduced oxidation ofthe enzyme during storage |
638414 |
| 2.4.2.8 | C22A/C105A/C205A |
site-directed mutagenesis, kinetic and physical properties are similar to the wild-type enzyme, but the mutant enzyme is more resistant to oxidation |
662654 |
| 2.4.2.8 | C22A/C105A/C205A |
site-directed mutagenesis, the exchanges stabilize the enzyme protein, but kinetic and structural properties of the mutant enzyme are identical to wild-type human HGPRT |
705041 |
| 2.4.2.8 | C23F |
naturally occuring mutation of HPRT1 gene, causes HPRT-related hyperuricemia |
705996 |
| 2.4.2.8 | D150A |
reduced activity compared to wild-type, kcat for hypoxanthine, guanine, and xanthine are reduced by 11fold, 296fold, and 8.6fold, respectively, Km value for alpha-D-5-phosphoribosyl 1-diphosphate is reduced by 6.5fold |
638406 |
