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. 2017 Aug 17;7:8614. doi: 10.1038/s41598-017-09258-2

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© The Author(s) 2017

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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TOP1MT V256I and R525W variants. (A) Frequency of the TOP1MT variants in the overall human populations. (B) Relative distribution of the V256I and R525W variants across human ethnic groups. (C) Positions of the two variants relative to TOP1MT functional and structural domains in linear format. MTS: Mitochondrial Targeting Signal; Core: the core domain; Linker: the linker domain; CTD: C-Terminal Domain. (D) representation of the positions of the two variants based on the crystal structure of TOP1³¹ (PDB ID: 1K4T).