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. 2018 Apr 13;8:5975. doi: 10.1038/s41598-018-24199-0

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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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Underlying genetic alteration identified as missense point mutation in Psmb10 at a highly conserved position. (a) Sanger sequencing of the Psmb10 gene exon 7 shows the G > T nucleotide substitution leading to an amino acid exchange from Gly to Trp in TUB6 mice. (b) Multi-species alignment revealed the strict evolutionary conservation of glycine 170 (indicated by a red arrow). Amino acid numbers are assigned according to the sequence alignment to the β-subunit of Thermoplasma acidophilum.