Figure 3.

ATP8B1 variant summary in a 2-dimensional illustration. 31 variants are divided into their phenotypic presentation and coloured by: No phenotype previously reported (n = 15), cholestatic phenotype reported in the literature (n = 7), gallstone disease (n = 7), liver cirrhosis (n = 1), Liver cirrhosis and multiple cholestatic phenotype (n = 1), and intrahepatic cholestasis of pregnancy (n = 2). Bold border represents variants that are unique to the Genes & Health cohort. Topo2 software (Johns S.J., TOPO2, Transmembrane protein display software, http://www.sacs.ucsf.edu/TOPO2) was used for illustration⁹⁵.