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. 2021 Mar 10;11:5595. doi: 10.1038/s41598-021-84938-8

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© The Author(s) 2021

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

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Mutation spectrum of NOD2 in inflammatory bowel disease (IBD) patients. NOD2 variation identified in patients with pediatric early onset IBD (upper) and adult IBD cohort from the RGC-GHS DiscovEHR collaboration (lower). Variants in blue were observed in both cohorts; variants in red are predicted loss-of-function that result in nonsense mediated decay. The three “common” low-frequency Crohn’s Disease risk variants are highlighted: R702W (purple), G908R (brown), and L1007fs (green). Also depicted are the NOD2 protein structural domains: two caspase activation and recruitment domains (CARD), a nucleotide binding and oligomerization (NOD) domain, and leucine rich repeat domains in yellow.