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Fig. 5. Functional domains of emerin defined in this study. Emerin is depicted schematically, showing the LEM-domain (LEM), transmembrane domain (TM), and position of each cluster of mutations (inverted triangles; numbered as in Fig. 1). Mutations are positioned to scale along the polypeptide sequence. Domains defined in this study are the BAF binding domain (residues 1-50, which include the LEM-domain), the lamin-binding domain (residues 70-178) and a proposed third domain of unknown function (residues 179-222). Stars indicate the positions of human mutations that cause Emery-Dreifuss muscular dystrophy. Shading at the right end of the proposed lamin-binding domain indicates less severely reduced binding of lamin A to mutant m164.





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