S459F : Mutation rate in human cells

Heterozygosity for the POLE-S459F mutation increases the mutation rate in a DNA mismatch repair-deficient human cell line.

• Hodel, K.P. et al. POLE mutation spectra are shaped by the mutant allele identity, its abundance, and mismatch repair status. Mol Cell 78, 1166-1177 (2020). https://pubmed.ncbi.nlm.nih.gov/32497495/