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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.