Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 Peter Green, Matthew Wiseman, Yanick J. Crow,

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Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 Peter Green, Matthew Wiseman, Yanick J. Crow, Henry Houlden, Shelley Riphagen, Jean-Pierre Lin, F. Lucy Raymond, Anne-Marie Childs, Eamonn Sheridan, Sian Edwards, Dragana J. Josifova The American Journal of Human Genetics Volume 86, Issue 3, Pages 485-489 (March 2010) DOI: 10.1016/j.ajhg.2010.02.006 Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 1 Multiple Alignment of C20orf54 Protein Sequence The C20orf54 protein sequence with the six missense mutations (p.E36K, p.R132W, p.F224L, p.L350M, p.V413A, and p.F457L) is shown in eight orthologs. The mutations p.E36K and p.V413A are found in case 9 (Table 1), who is a compound heterozygote. The alignment was performed with ClustalW2, and the GenBank accession numbers are NP_212134.3, XP_001152229.1, XP_001112427.1, XP_542938.2, XP_001916183.1, NP_001032275.1, NP_081448.2, and NP_001033515. The American Journal of Human Genetics 2010 86, 485-489DOI: (10.1016/j.ajhg.2010.02.006) Copyright © 2010 The American Society of Human Genetics Terms and Conditions