Fig. 13.1.

(a) The amino acid sequence of human CGI-58 protein. The amino acids in red circles highlight those mutated in patients with CDS. Some altered splice donor or acceptor sites are not highlighted. According to the two studies using the mouse CGI-58 protein [16, 74], the amino acids 16–30 in the human CGI-58 protein are likely required for LD anchoring. (b) CGI-58 mutations reported in humans before March 2020. Biallelic mutations in red color are associated with the full phenotypes of CDS, biallelic mutations in blue color are associated with the partial phenotypes (no ichthyosis) of CDS, and those in black color denote monoallelic mutations associated with nonalcoholic fatty liver disease