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. 2020 Apr 28;8:185. doi: 10.3389/fped.2020.00185

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Copyright © 2020 Zhang, Cheng, Luo, Lei, Mao, Shi, Cao, Zhang and Zhang.

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) The c.1976A>T (p.Gln659Leu) mutation is shown in a schematic of the gene structure. (B) (Q) Glutamine at position 659 is highly conserved in CHAT in various species (the box marks the amino acid of interest). (C) Homology models for CHAT protein generated using the crystal structures of CHAT protein (PDB accession code: 2FY4) as the template. (D) Cartoon structure representation of the subtle changes (Gln-to-Leu) at position 659. The green cartoon represents the wild-type protein, and the purple cartoon represents the mutant protein. Yellow dots represent polar contacts.