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. 2018 Aug 2;8:11635. doi: 10.1038/s41598-018-29952-z

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© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Overview of the top missense variants in the PTC family. (A) The 4 top ranked variants are shown with their favorable and unfavorable features. Grantham scores - 0–50 - conservative, 51–100 - moderately conservative, 101–150 - moderately radical and ≥151 - radical. (B) Location of the G573R variant in the peptidase M14 domain of CXPM1. (C) The G573R variant is localized in a highly conserved region. CXPM1 protein sequences were downloaded from GenBank as human (GenBank ID - NP_062555.1), gorilla (XP_004061758.1), cat (XP_003983774.1), pig (XP_003134381.1), seal (XP_021544821.1), lizard (XP_008120663.1), Xenopus (XP_002936314.1), catfish (XP_017320329.1), carp (XP_018934262.1), molly (XP_014844715.1) and zebrafish (XP_693256.4).