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Figure 3 Molecular genetics

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1 Figure 3 Molecular genetics
Molecular genetics (A) Illustration showing all the pathogenic mutations identified in myomaker (MYMK). The novel mutation c.235T>C (M1) and the previously described mutation c.271C>A (M2) identified in the 3 siblings in this study are indicated (NM_ ). (B) The 2D structure of MYMK showing the location of mutations (illustration adapted from reference 1). The p.Trp79Arg (M1) is located in one of the transmembrane domains and changes the large, nonpolar tryptophan (Trp/W) residue at position 79 to the large, positively charged arginine (Arg/R) residue―thus creating a shift in polarity from nonpolar to positively charged. (C) Pedigree of the family. Filled squares and circles indicate individuals with Carey-Finman-Ziter syndrome. Asterisk indicates the individual analyzed by whole-genome sequencing. (D) Illustration showing the evolutionary conservation of amino acids, the p.Trp79Arg (M1) with a conservation phyloP p value of 5.834E−5. The blue bars in the upper part show the residues that were found to be mutated. Carola Hedberg-Oldfors et al. Neurol Genet 2018;4:e254 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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