Figure 2.

Position of mutations in human PKP 1 gene. Schematic representation of the protein structure of PKP 1 with head domain “Head” in blue color containing the homologous region 2 “HR2” near the amino-terminus which is followed by nine armadillo repeats (yellow boxes; numbered in circles from 1 to 9). Finally, a short domain (blue) at the carboxyl-terminus is shown. Positions of homozygous mutations are marked by double arrows, positions of compound heterozygous mutations by connected arrows. Green arrows designate mutations affecting the coding region, red arrows denote splice-site mutations. For numbering and references of the mutations see Table 1.