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.