Fig. 6

Visualizing mutational hotspots. A The ‘amino-acid changes’ page displays the protein domains with the localization and type of mutations in the entire cohort. The example of the SDHA gene is shown. B Structure (accession #6VAX) of the SDHA active site from [44]. Only amino acids 446 to 472 are shown. The key active site residue R451 is indicated in black, the positions of the mutated residues in AEL are shown in red (left). Right, similar representation using the ‘schematic view, with amino acid side chains shown as sticks and balls using MMDB viewer [55]