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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis

Fig. 3

Three de novo mutations in MECP2 identified in this study are located in MBD and TRD domain of MeCP2 protein. Location of the novel DNM p.(Ile293Met) (I293M) in TRD domain is labeled in red. Multiple vertical lines beneath the blue box represent 62 different mutations in TRD domain (HGMD), which appears to be evenly distributed within the domain composed of 104 amino acids. Both p.(Arg168*) (R168X) and p.(Arg306Cys) (R306C) mutations in the first two patients are hot alleles. MeCP2 domains are predicted by SMART analysis (http://smart.embl-heidelberg.de/). AT-hook is a DNA-binding motif. Pink boxes represent low compositional complexity regions

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