Figure 2
From: Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease
CARMIL2 gene and protein view with newly identified and previously published variants. Schematic representation of the intron–exon structure of the CARMIL2 gene, which is located on Chromosome 16. The three novel variants reported in this study are labelled above the schematic illustration of the protein domains of CARMIL2, along with the previously described variants below. PH Pleckstrin-Homology domain, LRR Leucine-Rich Region, HD Helical Dimerization domain, CBR Capping Protein-Binding Region, PRD Proline-Rich Domain.
