Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation

Figure 4 Schematic representation of hepatocystin. The position of PRKCSH mutations that have been associated with PCLD are superimposed on the structure of hepatocystin. The new mutation detected in our family is indicated on top. The numbers reflect the amino acid numbering of hepatocystin. LDLa: low-density lipoprotein receptor domain A; EF: EF-hand calcium-binding domains; MPR: mannose 6-phosphate receptor domain.