Figure 1

Driver mutation amino acid sites and regions. The COSMIC dataset was used to identify the most frequent mutations for well-characterized driver mutation sites/regions. The y-axis demarcates the names of genes and frequency of mutations within each gene. The x-axis demarcates the amino acid position within the protein product for each mutation. The vertical position of the blue dots represents the frequency of an amino acid alteration at a specific site. For illustrative purposes a few well-characterized mutant proteins are displayed, and a threshold of at least 10 samples with a specific amino acid aberration was employed. For the IDH1 protein, the R132 amino acid site is clearly the most aberrant (n = 5,557 entries) to the exclusion of any other site. The BRAF protein displays both a dominant site at V600 (n = 32,371 entries) within one of two relatively high frequency mutation regions. Finally, the KIT protein demonstrates regions with relatively high frequencies of amino acid alterations.