Best place for figure 3

Distribution of pathogenic and benign missense variations to protein domains

In this experiment the position of RTT causing and benign missense variants in different domains and conserved regions of MECP2 are compared (Table 4 and Figure 4). Most RTT causing missense variations are found in the methyl-DNA binding domain (MDB) (68.3%) and in the transcription repressor binding domain (TRD). However, at lower frequencies, RTT causing missense variations can also be found in the other domains. The benign variants are most frequent in the C-terminal domain (55.1%) and the interdomain (28.1%), but can likewise also be found in the other domains at lower frequencies. The distribution across the conserved regions of MECP2 shows that 93.6% of the missense RTT causing variants are found in conserved regions while only 16.3% of the benign variants are found in conserved regions.