Fig. 1. Detection of K8 and K18 sequence variations in inflammatory bowel disease patients. (A) Patient DNA sequence from an ulcerative colitis patient showing heterozygous KRT8 g.1296G>T causing K8 Gly-62Cys. (B) Patient DNA sequence showing heterozygous KRT8 g.1299A>G causing K8 Ile63Val. (C) Patient DNA sequence showing KRT8 g.8510G>T causing K8 Lys464Asn. (D) Patient DNA sequence showing KRT18 g.4918G>C causing K18 Ser230Thr. (E) Positions of the amino acid substitutions in the K8 and K18 proteins. The helical domains are represented by boxes (shaded regions are hotspots for mutations causing severe disease in epidermal keratins) and the non-helical domains are represented by the solid line. Solid red triangles represent familial ulcerative colitis, solid green triangles represent familial Crohn disease and open green triangles represent sporadic Crohn disease.