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. 2022 Mar 10;10:831284. doi: 10.3389/fped.2022.831284

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Copyright © 2022 Liu, Wang, Zhang, Yang, Wang and Wang.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Mutation verification and protein 3D structure prediction. (A) Sanger sequencing demonstrated that c.1290delA was inherited from the mother. (B) Sanger sequencing demonstrated that c.1348_1361del was inherited from the father. (C) Genetic pattern analysis of compound heterozygotes. (D) Location of the mutation sites in the SCNN1B gene. (E,F) Amino acid sequence alignment indicated that both mutations caused early termination of amino acid synthesis (6wth.1.b refers to the amino acid sequence after mutation; Model_01 refers to the non-mutated amino acid sequence). (G) The 3D model predicted an incomplete ENaC structure after mutation.