Figure 5. Cx43 and paralogs.
Transmembrane domains are outlined; conserved residues are shaded gray. Disease-causing Cx43 mutations are shown above the alignment: EKVP reported here (red shade), ODDD (blue), ODDD with palmoplantar hyperkeratosis (purple), ODDD with Clouston syndrome (green shade); frameshifts (‘fs’), deletions (‘d’), insertions (‘i’). Mutation sites in paralogs reported to cause skin disease are in orange.