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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation

Fig. 1

The structure of the MEF2C protein and the location of MEF2C mutations. Red dots: Novel mutations found in this study. Green dots: Reported mutations. The upper line: Five MEF2C mutations identified in this study. The lower line: Nine MEF2C mutations that has been described previously. N, N-terminus; MADS, MCM1, agamous, deficiens, serum response factor; MEF2, myocyte enhancer factor 2; TAD, transcriptional activation domain; NLS, nuclear location signal; C, C-terminus

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BMC Medical Genetics

ISSN: 1471-2350

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