Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs41) by Whole-Exome Sequencing in Patients with Crohn’s Disease

Figure 2

Prediction of the protein structure translated from mutated NLRP12. (a) Schematic diagram of the protein domains of human NLRP12 and the predicted mutant protein (p.Val730Glyfs41) due to the NLRP12 c.2188dupG variant. Multiple alignment for the amino acid sequence of NLRP12 orthologs by MutationTaster. PYD: pyrin domain; NACHT: nucleotide-binding oligomerization domain; LRR: leucine-rich repeats. (b) The 3D structure model of the human native NLRP12 protein and mutant NLRP12 protein (p.Val730Glyfs41) were predicted using SWISS-MODEL online software. The green color represents the full-length NLRP12 protein. The purple one represents the truncated protein. It is evident that this mutation results in a protein product lacking the entire LRR domain in the C-terminus.

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