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. 2017 Aug 8;17:153. doi: 10.1186/s12883-017-0933-z

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© The Author(s). 2017

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. 1 — a Genetic pedigree of the family, with EOPD status indicated by shaded diamonds. Arrow indicates index case. b Chromatographs from sequencing with the c.650 position of PINK1 exon 2 highlighted. Traces for affected family members MF_1 (index case) and MF_3 show homozygous C > A transversions, while that of the ‘carrier’ MF_2 shows a heterozygous transversion. c Multiple alignments of the PINK1 protein in clustal format. Box indicates highly conserved ATPase orientation site. Shading indicates the position of the p.A217D mutation