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. 2016 Jan 22;17:6. doi: 10.1186/s12881-016-0269-3

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© Ryu et al. 2016

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 3 — Mutation analysis of the SR-357 family with the p.A374S variation. (a) Pedigree of Korean family SR-357. The filled squares and the filled circle represent affected males and a female, respectively. Unfilled symbols denote unaffected individuals. The symbol with a diagonal line indicates a deceased member. The individuals evaluated in this study are denoted by asterisks. The proband of the SR-357 family is indicated with the arrow. (b) Partial result of the DNA sequencing analysis of proband (III-2) and her parents (II-3, II-4). The arrows indicate the position of c.1120G > T. (c) Alignment of the VGLUT3 amino acid sequence in different vertebrate species: Homo sapiens, Aotus nancymaae, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, and Danio rerio. The arrow shows the position of the non-synonymous variation p.A374S