R423H : Mutation rate in yeast
The Saccharomyces cerevisiae pol3-R428H mutation mimicking human POLD1-R423H elevates the mutation rate in haploid strains when no wild-type POL3 allele is present. Diploids heterozygous for the pol3-R428H mutation do not show a mutator phenotype.
References
- Mertz, T.M. Characterization of cancer-associated DNA polymerase δ variants. Ph.D. thesis, University of Nebraska Medical Center (2015). https://digitalcommons.unmc.edu/etd_retro/2093/