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. 2019 Aug 22;10:718. doi: 10.3389/fgene.2019.00718

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Copyright © 2019 Yan, Wang, Zhang, Zhang, Gao, Lv, Li, Liu and Gai

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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Pathogenicity and conservation analysis of the missense and nonsense mutations of CPS1. (A) Pathogenicity analysis of c.1981G > T (p.G661C) shows “probably damaging” with a score of 1.000 (sensitivity: 0.00; specificity: 1.00) by PolyPhen-2. (B) In silico analysis of c.1981G > T (p.G661C) in CPS1 shows the site p.G661 highly conservative in different species of human, chimpanzee, bushbaby, horse, alpaca, chicken, anole, and cod. (C) In silico analysis of c.2896G > T (p.E966X) in CPS1 shows the site p.E966 highly conservative in different species of human, chimpanzee, bushbaby, horse, alpaca, chicken, anole, and cod.