D275V : Mutation rate in yeast
The Saccharomyces cerevisiae pol2-D290V mutation mimicking human POLE-D275V elevates the mutation rate in haploid and homozygous diploid strains when no wild-type POL2 allele is present. Heterozygous pol2-D290V/POL2 diploids have a marginally elevated mutation rate.
References
- Barbari, S.R., Kane, D.P., Moore, E.A. & Shcherbakova, P.V. Functional analysis of cancer-associated DNA polymerase ε variants in Saccharomyces cerevisiae. G3 (Bethesda) 8, 1019-1029 (2018). https://pubmed.ncbi.nlm.nih.gov/29352080/