Fig. 1
From: Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes
MECP2 gene and protein. MECP2 is located on the X chromosome (X:154021573–154137103) on the reverse strand (ensembl, human genome built 8.2). MECP2 gene is about 10505 bp long and has 4 exons which can be spliced to two protein-coding variants e1 and e2. The protein has 498 (486) amino acids and consists of 6 distinct domains whereas the methyl-DNA binding (MDB) and the transcriptional repression domain (TRD) are the most important for function. Mutation positions are marked with red arrows according to Lyst et al. 2013 [57]. Solid red arrows indicate position of mutations of MECP2, which are present in Rett females but not in their parents. Those are found mostly in MDB and the C-terminal end of TRD. Empty red arrows indicate MECP2 mutations, which do not lead to Rett syndrome. The major phorphorylation sites (S80 and S241) are marked in black [118]