Table 1 Variations in GJB2 gene identified in all subjects
Nucleotide change | Amino acid change | Domain | Category | PolyPhen-2 prediction | SIFT prediction | Previous report | Numbers found in patients (N = 658) | Freq in patients (%) | Numbers found in controls (N = 462) | Freq in controls (%) |
|---|---|---|---|---|---|---|---|---|---|---|
c.35delG | Frameshift | IC1 | Pathogenic | N/A | N/A | Yes | 2 | 0.30 | 0 | 0.00 |
c.79G > A | Val27Ile | TM1 | Polymorphism | 1.000 | 0.15 | Yes | 135 | 20.52 | 65 | 14.07 |
c.101 T > C | Met34Thr | TM1 | Polymorphism | 0.038 | 0.12 | Yes | 3 | 0.46 | 1 | 0.22 |
c.109G > A | Val37Ile | TM1 | Pathogenic | 1.000 | 0.12 | Yes | 15 | 2.28 | 4 | 0.87 |
c.176del16 | Frameshift | EC1 | Pathogenic | N/A | N/A | Yes | 21 | 3.19 | 2 | 0.43 |
c.235delC | Frameshift | TM2 | Pathogenic | N/A | N/A | Yes | 102 | 15.50 | 3 | 0.65 |
c.257C > G | Thr86Arg | TM2 | Pathogenic | 1.000 | 0.00 | None | 2 | 0.30 | 0 | 0.00 |
c.299delAT | Frameshift | IC2 | Pathogenic | N/A | N/A | Yes | 31 | 4.71 | 2 | 0.43 |
c.341A > G | Glu114Gly | IC2 | Polymorphism | 0.001 | 0.27 | Yes | 25 | 3.80 | 9 | 1.95 |
c.368C > A | Thr123Asn | IC2 | Unknown | 0.000 | 0.53 | Yes | 5 | 0.76 | 1 | 0.22 |
c.504insAAGG | Frameshift | EC2 | Pathogenic | N/A | N/A | Yes | 2 | 0.30 | 0 | 0.00 |
c.571 T > C | Phe191Leu | EC2 | Unknown | 1.000 | 0.00 | Yes | 4 | 0.61 | 0 | 0.00 |
c.605ins46 | Stop at aa 202 | TM4 | Pathogenic | N/A | N/A | Yes | 2 | 0.30 | 0 | 0.00 |
c.608TC > AA | Ile203Lys | TM4 | Pathogenic | N/A | 0.00 | Yes | 2 | 0.30 | 0 | 0.00 |
c.608 T > C | Ile203Thr | TM4 | Polymorphism | 0.906 | 0.00 | Yes | 2 | 0.30 | 1 | 0.22 |
Total | 353 | 53.65 | 88 | 19.05 |