GJB2 and deafness: Ser183. De Zwart-Storm et al. (2008) studied variant p.Ser183Phe associated with deafness and PPK, and showed that, despite the minor defects in trafficking of part of the mutant protein to the plasma membrane, the membrane-localized channels formed by the Cx26-Ser183Phe mutant at least partially save their function, allowing transfer of calcein dye in the HeLa Ohio cell line, expressing wild-type Cx26 [176].