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. 2022 Jun 29;13:875013. doi: 10.3389/fgene.2022.875013

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Copyright © 2022 Tseng, Yang, Sung, Ding, Hsu, Chu and Lin.

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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A multiple sequence alignment shows R480 as a highly conserved residue. (A) Pedigree showing the index patient and her parents with heterozygous CNNM2 mutation with a half-filled black symbol. (B) The R480 of CNNM2 is a highly conserved amino acid (Stuiver et al., 2011). The sequence accession IDs are H. sapiens: Q9H8M5, M. musculus: Q3TWN3, R. norvegicus: Q5U2P1, G. gallus: K7CZV7, B. taurus: A0A3Q1LRB9, C. lupus: E2RJ19, D. melanogaster (UEX): A0A0B7P9G0, C. elegans (C52D10.12): A3QM97, and S. cerevisiae (Mam3p): N1NX85.