EC Number   |
Protein Variants |
Reference |
|---|
    2.4.2.7 | G168E |
the mutant of isoform APT1 shows reduced activity with zeatin (about 14%) and adenine (about 28%), respectively, compared to the wild type enzyme |
736843 |
| 2.4.2.7 | G195D |
the mutant of isoform APT1 shows nearly no activity with zeatin and adenine, respectively, compared to the wild type enzyme |
736843 |
| 2.4.2.7 | G196R |
the mutant of isoform APT1 shows nearly no activity with zeatin and adenine, respectively, compared to the wild type enzyme |
736843 |
| 2.4.2.7 | K90A |
site-directed mutagenesis, decreased turnover compared to the wild-type |
638171 |
| 2.4.2.7 | K93A |
site-directed mutagenesis, decreased turnover, increased Km value for adenine and 5-phosphoribose 1-phosphate compared to the wild-type |
638171 |
| 2.4.2.7 | L110P |
mutation is associated with renal dysfunction |
658879 |
| 2.4.2.7 | L96F |
the mutant of isoform APT1 shows reduced activity with zeatin (about 11%) and adenine (about 8%), respectively, compared to the wild type enzyme |
736843 |
| 2.4.2.7 | M136T |
10.3% loss of activity |
659576 |
| 2.4.2.7 | more |
a naturally occuring mutation T596G leading to amino acid exchange F199C in hypoxanthine guanine phosphoribosyltransferase, HPRT, EC 2.4.2.8, with 92% reduced activity and a severe gouty arthritis phenotype, while the mutation or HPRT deficiency typically lead to a 2-3fold increased APRT activity in erythrocytes. Modeling of the mutated protein for prediction of the mechanisms of partial enzymatic activity |
701979 |
| 2.4.2.7 | more |
alignment of amino acid sequences, correlation between human clinical missense mutations and structure, structure taken from Leishmania donovani enzyme |
638166 |
