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. 2024 May 29;13:28. doi: 10.1186/s40035-024-00416-x

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© The Author(s) 2024

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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. 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 in a credit line to the data.

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Fig. 3 — Molecular alterations of SOD1 variants. a Location of SOD1 gene (Accession No: NC_000021). b Age of onset distribution among patients with different genetic locations of SOD1 variants. c Disease durations of patients with different genetic location of SOD1 variants. d Secondary structure of SOD1 protein. The secondary structural elements, including alpha-helices and beta-strands, were identified using the PyMOL software (version 2.5.0) based on the 3D crystal structure of the human SOD1 protein (PDB id: 2V0A). e The 3D crystal structure of the human SOD1 protein from the Protein Data Bank (PDB id: 2V0A). Codon colors represent the associations of the variants with the mean disease duration and the mean age of onset. Green represents disease duration longer than 56.17 months (the mean disease duration of the total SOD1-related ALS patients) and the age of onset older than 48.51 years (the mean age of onset of the total SOD1-related ALS patients), blue indicates longer duration and younger age, yellow signifies shorter duration and older age, and red indicates shorter duration and younger age. (f) Age of onset and disease duration of patients with different amino acid sites of variant. Significance was analyzed using Kruskal–Wallis test and P-values were adjusted to account for multiple comparisons using Bonferroni correction. *P ≤ 0.05, ** P ≤ 0.01, *** P ≤ 0.001, ****P ≤ 0.0001