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. 2016 Sep 1;3(11):854–865. doi: 10.1002/acn3.347

Figure 1.

Figure 1

Schematic representations of the membrane topologies of GJB1 and the mutations identified in this study. GJB1 spans the plasma membrane four times with cytoplasmic C‐ and N‐termini, a cytoplasmic loop and two extracellular loops. The p.M1I, p.L6S, and p.I20F mutations are in the N‐terminal domain. The p.S26L, p.V91M, p.S138G, and p.L144del mutations are in the transmembrane domains. The p.I101Rfs*8 mutation leads to a premature truncation in the cytoplasmic loop. The p.S49Y mutation is located in the first extracellular loop. Furthermore, the p.F153L, p.M162L, p.R164Q, p.C173Y, p.R183C, p.R183H, and p.E186K mutations are located in the second extracellular loop, and the p.R215P, p.R220X, and p.D278V mutations are located in the C‐terminal domain.