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. 2016 Jun 3;16:87. doi: 10.1186/s12883-016-0604-5

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© The Author(s). 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. 5 — Bioinformatic prediction of the SPG11 protein structure in the presence of the found mutations. Boxes in blue indicate the exons of the SPG11 major transcripts (NM_025137 and NM_001160227). The location of the mutations described in this study are located in exon 7 (c.1551_1552delTT) and upstream of exon 31 (c.5867-1G > T (IVS30-1G > T)). Boxes in grey indicate the predicated protein truncations (middle and lower) as compared with a full-length wild-type structure (upper)