Figure 1
Alignment of amino-acid sequences of human and other species’ connexin26 (Cx26) showing the mutation sites of two novel variants, p.Cys60Tyr and p.Phe106Leu, and functional prediction of p.Cys60Tyr and p.Phe106Leu. We found two novel variants p.Cys60Tyr and p.Phe106Leu. To predict their pathogenesis, we compared amino-acid sequences of human and other species’ Cx26. As Cys60 is evolutionarily conserved, p.Cys60Tyr could be pathogenic; p.Phe106Leu is probably a non-pathogenic polymorphism because Xenopus has a leucine at this position. The functional prediction of p.Cys60Tyr was Damaging (1.0) by SIFT, and Damaging (1.0) by PolyPhen2. That of p.Phe106Leu was Tolerated (0.23) by SIFT and Benign (0) by PolyPhen2. Prediction by SIFT and PolyPhen2 also showed that p.Cys60Tyr would be pathogenic and p.Phe106Leu would be a non-pathogenic polymorphism.
