Table 1 Pathogenic or unclassified variants in GJB2 among 1852 deaf patients
From: Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations
Nucleotide Change | Effect on Protein | Allele counts | Allele Frequency in 1852 deaf patients (%,3704 allele) | Category |
|---|---|---|---|---|
Frameshift mutations | ||||
 c.235delC | frameshift | 676 | 18.25 | pathogenic |
 c.299_300delAT | frameshift | 109 | 2.94 | pathogenic |
 c.507insAACG | frameshift | 24 | 0.65 | pathogenic |
 c.36insG | frameshift | 9 | 0.24 | pathogenic |
 c.176del16bp | frameshift | 7 | 0.19 | pathogenic |
 c.605ins46 | frameshift | 7 | 0.19 | pathogenic |
 c.312del14 | frameshift | 1 | 0.03 | pathogenic |
 c.35delG | frameshift | 1 | 0.03 | pathogenic |
 c.443delC | frameshift | 1 | 0.03 | pathogenic |
 c.493insG | frameshift | 1 | 0.03 | pathogenic |
Nonsense mutation | Â | 0.00 | Â | |
 c.9G > A | p. W3* | 4 | 0.11 | pathogenic |
 c.139G > T | p. E47* | 5 | 0.13 | pathogenic |
 c.231G > A | p. W77* | 2 | 0.05 | pathogenic |
Missense mutations | Â | 0.00 | Â | |
 c.109G > A | p. V37I | 292 | 7.88 | Pathogenica |
 c.368C > A | p. T123 N | 31 | 0.84 | unclassified |
 c.257C > G | p. T86R | 19 | 0.51 | pathogenic |
 c.427C > T | p. R143W | 7 | 0.19 | pathogenic |
 c.571 T > C | p. F191 L | 5 | 0.13 | unclassified |
 c.344 T > G | p. F115C | 4 | 0.11 | unclassified |
 c.11G > A | p. G4D | 3 | 0.08 | pathogenic |
 c.224G > A | p. R75Q | 3 | 0.08 | pathogenic |
 c.223C > T | p. R75W | 2 | 0.05 | pathogenic |
 c.389G > T | p. G130 V | 2 | 0.05 | pathogenic |
 c.583A > G | p. M195 V | 2 | 0.05 | unclassified |
 c.164C > A | p. T55 N | 1 | 0.03 | pathogenic |
 c.181A > C | p. K61Q | 1 | 0.03 | pathogenic |
 c.187G > T | p. V63 L | 1 | 0.03 | pathogenic |
 c.77C > T | p. T26I | 1 | 0.03 | unclassified |
 c. 95G > A | p. R32H | 1 | 0.03 | pathogenic |
 c.232G > A | p. A78T | 1 | 0.03 | unclassified |
 c.242 T > G | p. L81R | 1 | 0.03 | pathogenic |
 c.250G > A | p. V84 M | 1 | 0.03 | pathogenic |
 c.253 T > C | p. S85P | 1 | 0.03 | pathogenic |
 c.257C > T | p. T86 M | 1 | 0.03 | pathogenic |
 c.379C > T | p. R127C | 1 | 0.03 | pathogenic |
 c.389G > C | p. G130A | 1 | 0.03 | pathogenic |
 c.107 T > C | p. L36P | 1 | 0.03 | unclassified |
 c.398G > C | p. W133S | 1 | 0.03 | unclassified |
 c.457 G > A | p. V153I | 1 | 0.03 | unclassified |
 c.478G > A | p. G160S | 1 | 0.03 | unclassified |
 c.493 C > T | p. R165W | 1 | 0.03 | pathogenic |
 c.551G > A | p. R184Q | 1 | 0.03 | pathogenic |
 c.551G > C | p. R184P | 1 | 0.03 | pathogenic |
 c.586A > G | p. I196V | 1 | 0.03 | unclassified |
 c.587 T > C | p. I196T | 1 | 0.03 | unclassified |
 c.598G > A | p. G200R | 1 | 0.03 | pathogenic |
Splice site mutation | ||||
 c.-3170G > A | IVS1 + 1 G > A | 1 | 0.03 | pathogenic |