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Figure 1 Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations Family pedigrees, clinical photographs,

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Presentation on theme: "Figure 1 Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations Family pedigrees, clinical photographs,"— Presentation transcript:

1 Figure 1 Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations Family pedigrees, clinical photographs, and multispecies alignment showing the effect of the 3 reported mutations (A–B) Pedigrees of families A and B showing affected (black), unaffected (white), and possibly affected (grey) individuals. Those clinically investigated are indicated by * and those who had genetic testing are indicated by the test result, where (+/−) represents individuals heterozygous for the SLC5A7 mutation and (−/−) represents individuals homozygous for wild type. (C) Hands of individual B:III:1 showing pronounced atrophy of the intrinsic hand muscles. (D) Species amino acid sequence alignment of the CHT C-terminal region, depicting the outcomes of the K499Nfs13, H521Qfs2, and K510Nfs2 alterations (arrows indicate the position of polypeptide truncation, and additional aberrant amino acids are highlighted in yellow). The primary endocytic motif (SEENMDKTILV-1° Motif) is highlighted in blue (Ser522 to Val532), and the secondary endocytic motif (DELAL-2° Motif) is highlighted in green (Asp540 and Leu544). Claire G. Salter et al. Neurol Genet 2018;4:e222 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology

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