Schematic representation of EG5 (1056 amino acids) with position of mutations causing MCLMR syndrome. Functional domains (colored), in vitro mutagenized residues (signs) and post-translationally modified amino acids (signs). Mutations found in this study, top; those published earlier, below (Ostergaard et al. 2012, Hazan et al. 2012, Jones et al. 2013, Mirzaa et al. 2014 and Robitaille et al. 2014). Splice-site alterations (¶: family II and family V) shown to result in r.211_308del; p.Thr71Argfs*8 and r.789_790insAG; p.Val264Argfs*26, respectively (Figure 4). N.B. positions based on amino acids in Mirzaa et al.