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