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. 2019 Nov 8;9:16359. doi: 10.1038/s41598-019-52617-4

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© The Author(s) 2019

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

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The alignment of the PTCH1 amino acid sequence of reference and the biology effect of the mutated sites for posttranslational modification. The 1^st line is the UniProt Knowledgebase (UniProtKB) sequence of human PTCH1 protein, entry number Q13635. The 2^nd line is the full sequence of PTCH1, patched homolog 1. The structural motif of PTCH1 protein is drawn in line 3. The transmembrane helices are shown as red boxes, and the extracellular and intracellular domains are shown as blue lines. The 4^th line is the sterol-sensing domain (SSD) for cholesterol signaling. The 5^th line is the binding site for ligand proteins (patched and patched family proteins). The 6^th line is the known sites of posttranslational modification. The green nodes are sites of phosphorylation, and the blue nodes are sites of methylation. c.3591C (phosphorylation of p.S1197 protein) is expressed as a green node. The mutation site c.3583A > T (p.T1195S in the protein) is marked with a red line and is located in the intracellular domain at the C-terminus of PTCH1 protein.