Effect of genetic regions on the correlation between single point mutation variability and morbidity

Cross-species sequence comparisons have suggested that cross-species sequence variability is correlated with functionality. The goal of this study was to extend this observation at different genetic regions, focusing on the morbidity of Single Nucleotide Polymorphisms (SNPs). A set of deleterious SNPs was compared to a set of neutral SNPs. Both samples were stratified according to the location of the SNPs at different genetic regions. Deleterious SNPs were observed to be less variable across species than neutral SNPs, these differences being significant for missense mutations (p=1.1×10−9p=1.1×10−9), SNPs in introns (p=6.4×10−3p=6.4×10−3), and SNPs in unknown regions (p=8×10−4p=8×10−4).