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 |
IC intracellular, TM transmembrane, EC extracellular.
The amino acid substitution is predicted damaging by the score of PolyPhen-2 (0 being least and 1 being most) and SIFT (ranges from 0 to 1, damaging < = 0.05, tolerated > 0.05).