EC Number |
Protein Variants |
Reference |
---|
2.7.7.7 | A329A |
not meaningfully associated with breast cancer risk; more likely to respond to Pt-based chemotherapy |
761958 |
2.7.7.7 | A408S |
A408S mutation results in a significant increase in both dNTP binding affinity and fidelity, kcat/Km for dATP is about 45% compared to the wild-type enzyme, D215A mutation results in inactivation of 3'-5'-exonuclease activity |
721612 |
2.7.7.7 | A467T |
naturally occuring mutation, the mutation is the most common POLG mutation and has been found to be associated with all of the disease symptoms analyzed. The A467T pol gamma possesses only 4% of the wild-type DNA polymerase activity and is compromised for its ability to interact with the p55 accessory subunit |
723108 |
2.7.7.7 | A471V |
moderate decrease in activity |
761958 |
2.7.7.7 | A957S |
naturally occuring mutation, involved in autosomal dominant progressive external ophthalmoplegia, the mutation is associated with motiif B in the active site |
723108 |
2.7.7.7 | D10A |
retains polymerase activity, reduced exonuclease activity, changes in dependency on metal activation of exonuclease activity |
643653 |
2.7.7.7 | D111A |
94% loss of DNA polymerase activity |
726027 |
2.7.7.7 | D1122A |
loss of polymerization activity |
722619 |
2.7.7.7 | D1122E |
mutant enzyme with reduced polymerization activity, polymerization activity is 15% compared to wild-type activity, 3'-5' exonuclease activity remains, the mutant has lower Mg2+ affinity than does the wild-type |
722619 |
2.7.7.7 | D1124A |
loss of polymerization activity |
722619 |