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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Figure 2

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.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172