Best place for figure 4
Considering protein consequences, in 1350 cases, which is about half of the RTT causing single nucleotide mutations, are protein truncating variants, changing an Arginine into a stop codon. Also frequently, Arginine is changed into a Cysteine (533) or Tryptophan (179) which are major changes considering protein 3D structure. The average BLOSUM62 value of all amino acid changes for the RTT causing dataset is -1.8. For the benign MECP2 variations, the most abundant variations are silent (= not amino acid changing), coding for Serine (65), Threonine (44) and Proline (40). The most abundant amino acid change is Glutamic acid to Lysine (33) and the average BLOSUM62 value of all amino acid changes indicates with -0.3 less severe consequences for the protein structure than the RTT causing group.