This results in a premature termination of the protein's translation and the formation of a non-functional truncated connexin 26 gap junction protein, leading to deafness.[16–18] Nonetheless, the pathogenicity of missense mutations depends on many factors, such as the location of the mutation in the protein and the nature of the substitution.[14] The finding of missense mutations involving the location of p. Val38Ala in the domain of a propositus has never been reported. This evidence concerns the gene GJB2 and deafness.