PKD1L1 and polycystic kidney disease: In the PKD1L1 protein structure variant, c.1543G>A(p.Gly515Arg) is located in the first functional polycystic kidney disease domain (PKD) of the protein, and variant c.3845T>A(p.Val1282Glu) is located in the functional receptor for egg jelly domain (REJ) of the protein (Figure 1).