Figure 4

Mutations in the ADAR1 gene that are associated with human disease. The ADAR1 protein contains several distinct domains (labeled and colored in green, purple, or blue). A number of nucleotide mutations of the ADAR1 gene have been associated with human diseases. There are 130 mutations associated with dyschromatosis symmetrica hereditaria (blue), eight mutations associated with Aicardi-Goutières syndrome (red), and 1 mutation associated with both conditions (black and bold). Many of these mutations occur within key domain regions (indicated by lines from each domain to the first and the last mutation falling within that domain), with the majority of the mutations occurring in the catalytic deaminase domain. dsRNA, double-stranded RNA.