Table 1

‚ÄÉMutations identified in GJA1

Family numberMutation in GJA1Mutation in connexin 43Position of mutation in connexin 43
ODD1 nt93T>GI31MTransmembrane domain 1
ODD2 nt427G>AG143SCytoplasmic loop
ODD3 nt443G>AR148QCytoplasmic loop
ODD4 nt443G>AR148QCytoplasmic loop
ODD5 nt206C>AS69YExtracellular loop 1
ODD6 nt402G>TK134NCytoplasmic loop
ODD7 nt119C>TA40VTransmembrane domain 1
ODD8 nt338T>CL113PCytoplasmic loop
ODD9 nt79T>CS27PTransmembrane domain 1
ODD10 nt605G>AR202HExtracellular loop 2