fig2
Figure 2. The PNPLA3 gene. The PNPLA3 gene is located on the long arm (q-arm) of the human chromosome in region 22q13.31. It encodes a protein of 481 amino acids in size that has a PNPLA motif (underlined), which contains the characteristic GXGXXG, GXSXG, and DGA/G motifs (all in blue). The non-synonymous substitution (rs738409) of isoleucine to methionine at position 148 results in a protein with reduced enzymatic activity. The image of the ideogram was taken from the Genome Data Viewer of the National Library of Medicine (https://www.ncbi.nlm.nih.gov/gdv/).