EC Number   |
Protein Variants |
Reference |
|---|
    2.7.1.113 | A2S |
resulting from a base change G to T at position 4, a G base change immediately after the start codon is likely to affect start codon recognition by the ribosome the patient has an additional base change G to A at position 591 results in skipping of exon 4, very low residual activity |
671890 |
| 2.7.1.113 | D255Y/D255Y |
the mutation is associated with deoxyguanosine kinase deficiency |
705474 |
| 2.7.1.113 | D78A |
no deoxyguanosine kinase activity |
640565 |
| 2.7.1.113 | D78E |
no deoxyguanosine kinase activity |
640565 |
| 2.7.1.113 | D78N |
no deoxyguanosine kinase activity |
640565 |
| 2.7.1.113 | D84A |
1% of wild-type activity |
-, 640564 |
| 2.7.1.113 | D84E |
41% of wild-type activity, not inhibited by dGTP and dATP |
-, 640564 |
| 2.7.1.113 | D84N |
5% of wild-type activity |
-, 640564 |
| 2.7.1.113 | E165V |
naturally occuring enzyme mutation involved in mitochondrial depletion syndrome |
722470 |
| 2.7.1.113 | E227K |
site-directed mutagenesis, mutation is naturally found in patients, unaltered Km but very low Vmax for all substrates compared to the wild-type enzyme |
661728 |
