Pathogenic GJB2 gene mutation | Count | Allele frequency (%) | Prediction by in silico computational analysis |
---|---|---|---|
c.35delG, p.(Gly12Valfs*2), rs80338939 | 112 | 64.7 | MutationTaster2 Disease causing |
c.313_326del14 p.(Lys105Glyfs*5), rs111033253 | 49 | 28.3 | MutationTaster2 Disease causing |
c.269 T > C p.(Leu90Pro), rs8033894 | 4 | 2.3 | Sift Damaging (score 0.000) |
Polyphen-2 Probably damaging (score 1.0) | |||
MutationTaster2 Disease causing | |||
c.101 T > C p.(Met34Thr), rs35887622 | 4 | 2.3 | Sift Damaging (score 0.027) |
Polyphen-2 Benign (score 0.083) | |||
MutationTaster2 Disease causing | |||
c.167delT p.(Leu56Argfs*26), rs80338942 | 2 | 1.2 | MutationTaster2 Disease causing |
c.109G > A p.(Val37Ile), rs72474224 | 1 | 0.6 | Sift Tolerated (score 0.717) |
Polyphen-2 Probably damaging (score 1.0) | |||
MutationTaster2 Disease causing | |||
c.379C > T p.(Arg127Cys), rs727503066 | 1 | 0.6 | Sift Damaging (score 0.0) |
Polyphen-2 Benign (score 0.423) | |||
MutationTaster2 Disease causing | |||
Total | 173 | 100.0 | Â |