Fig. 3
From: Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes
Distribution of human MMR PVs in 100 vertebrates. Each row represents a species and the order is sorted based on phylogenetic tree. Each column represents a locus in an MMR gene. The heatmap displays the 197 MMR PVs shared with non-human vertebrate species. The arrows indicate the founder MMR PVs in modern humans (MLH1 c.392C > G, MSH2 c.1906G > C and MSH6 c.10C > T). The distribution of shared human PVs was compared among clades (Adjusted P < 0.0001, two-tailed Kruskal–Wallis test with Benjamini–Hochberg correction)