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. 2022 Feb 10;13:800. doi: 10.1038/s41467-022-28343-3

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© The Author(s) 2022

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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Fig. 5 — a 15 AA patients heterozygous for the Arg47X variant (12-52799923-G-A; highlighted in pink). Different genotypes (blue = alternate homozygous, yellow = heterozygous, green = reference homozygous) at variant 12-52799341-C-T (582 bp away) confirms the presence of the Arg47X A allele on different haplotypes, identifying it as a hotspot mutation. b Schematic of KRT82 exon 1 (blue) with ENCODE methylation patterns (orange) in 4 skin cell types: fibroblasts (Fibrobl), Melanocytes (Melano), Neonatal Dermal Fibroblasts (NHDF-neo), and Skin Tissue (Skin BC). This is a visualization of the methylated cytosine (C) of the sense strand that is spontaneously deaminated resulting in a mutational hotspot and premature stop codon at position 47.