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Fig. 1 | BMC Medicine

Fig. 1

From: Prevalence of genetic variants of keratins 8 and 18 in patients with drug-induced liver injury

Fig. 1

Distribution of the identified keratin 8/18 (K8/K18) variants within the protein backbone. The schematics depict the tripartite keratin structure consisting of head, rod and tail domains with their corresponding amino acid annotations. The rod subdomains IA, IB and II are connected by the corresponding linker (L) sequences, L1, L1-2, L2, and the shaded regions at the beginning and end of the rod domain correspond to particularly conserved helix initiation/termination motifs (HIM/HTM) that represent the mutational hotspots in epidermal keratins. The exonic structure of both genes is also depicted (E1–E8 for K8 and E1–E7 for K18). The exons that were analyzed in the present study are highlighted in bold. The coding variants are denoted by position and alteration of the affected amino acid displayed by the single-letter code. The relation of the intronic variants to the coding sequences is also shown. For annotation of intronic variants, the intervening sequences are labeled as ‘IVS’ and the position of a single variant located in the 5′UTR of K18 is denoted by its nucleotide (‘nt’) distance from the starting codon. The novel variants which were not previously described are highlighted in bold and the absolute count of all variants is listed in parentheses. Note that the novel K8 K393R and K18 D89H represent the first described K8/K18 variants localized in the most conserved HTM/HIM regions

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