Fig. 1. Schematic diagram of Cx43-eYFP indicating predicted topology, position of eYFP and locations of ODDD-associated amino acid mutations. Connexin 43 is predicted to span the plasma membrane four times and has cytoplasmically located N and C termini. Y17S is in the N-terminal domain. G21R and A40V are in the first transmembrane domain. F52dup is in the first extracellular loop. L90V is in the second transmembrane domain. I130T is in the cytoplasmic loop. Amino acids sites of other published ODDD-associated mutations have been circled. Fusion of eYFP to the C terminus of Cx43 by an eight amino acid linker segment is indicated. Mutations reported in this study are labeled, and mutations indicated by an asterisk are those producing neurological symptoms.