Table 4 Summary of mutations/ variants in GJB2 gene observed among the DXD, DXN mates and normal hearing controls
S. No. | GJB2 VARIANTS | DOMAIN/ LOCATION | No. of alleles in DXD mates (n=236) | Frequency in DXD mating (%) | No of alleles in affected partners of DXN mating (n=92) | Frequency in HI partners of DXN mating (%) | No of alleles in normal partners of DXN mating (n=86) | Frequency in normal hearing partners of DXN (%) | No. of alleles in normal hearing control (n=330) | Frequency in Normal hearing controls (%) | |
|---|---|---|---|---|---|---|---|---|---|---|---|
CODON | PROTEIN | ||||||||||
1 | c.71 G>A | p.W24X | TM1 | 60 | 25.42 | 28 | 30.43 | 6 | 6.98 | 6 | 1.82 |
2 | c.79 G>A | p.V27I | TM1 | 2 | 0.85 | 0 | 0 | 0 | 0 | 0 | 0 |
3 | c.104 T>G | p.I35S | TM1 | 2 | 0.85 | 0 | 0 | 0 | 0 | 0 | 0 |
4 | c. 109 G>A | p.V37I | TM1 | 1 | 0.42 | 0 | 0 | 0 | 0 | 0 | 0 |
5 | c. 126 G>T | p.E42D | EC1 | 3 | 1.27 | 0 | 0 | 0 | 0 | 0 | 0 |
6 | c.135 A>G | p.G45G | EC1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0.3 |
7 | c.165 C>A | p.T55T | EC1 | 1 | 0.42 | 0 | 0 | 0 | 0 | 3 | 0.91 |
8 | c. 185 A>G | p.N62S | EC1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0.3 |
9 | c. 224 G>A | p. R75Q | TM2 | 1 | 0.42 | 0 | 0 | 0 | 0 | 0 | 0 |
10 | c.231 G>A | p.W77X | TM2 | 5 | 2.12 | 1 | 1.09 | 0 | 0 | 0 | 0 |
11 | c.240 G>A | p.Q80Q | TM2 | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 0.61 |
12 | c.257C>T | p.T86M | TM2 | 0 | 0 | 2 | 2.17 | 1 | 1.16 | 0 | 0 |
13 | c.262 G>A | p.A88A | TM2 | 0 | 0 | 2 | 2.17 | 1 | 1.16 | 0 | 0 |
14 | c.341 A>G | p.E114G | IC2 | 2 | 0.85 | 0 | 0 | 0 | 0 | 0 | 0 |
15 | c. 370 C>T | p.Q124X | IC2 | 3 | 1.27 | 2 | 2.17 | 1 | 1.16 | 0 | 0 |
16 | c.380 G>A | p.R127H | IC2 | 25 | 10.59 | 4 | 4.35 | 6 | 6.98 | 57 | 17.27 |
17 | c.439 G>A | p.E147K | TM3 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0.3 |
18 | c.457 G>A | p.V153I | TM3 | 14 | 5.93 | 1 | 1.09 | 3 | 3.49 | 6 | 1.82 |
19 | c.493 C>T | p.R165W | EC2 | 1 | 0.42 | 0 | 0 | 1 | 1.16 | 3 | 0.91 |
20 | c. 551G>A | p.R184Q | EC2 | 1 | 0.42 | 0 | 0 | 0 | 0 | 0 | 0 |
21 | c.585 G>A | p.M195I | TM4 | 0 | 0 | 1 | 1.09 | 0 | 0 | 1 | 0.3 |
22 | c.675 A>T | p.P225P | IC3 | 0 | 0 | 1 | 1.09 | 0 | 0 | 1 | 0.3 |
23 | c.IVS 1+1 G>A (-3172 G>A) | Intronic Splice site region | 4 | 1.7 | 0 | 0 | 0 | 0 | 0 | 0 | |
TOTAL | 125 | 52.96 | 42 | 45.65 | 19 | 22.09 | 82 | 24.85 | |||