Table 1. Variants in the GJB2 gene among 1067 Han Chinese subjects with hearing loss.
| Nucleotide Change | Effect on Protein | dbSNP ID | Conservation Index (%) a | Allele Frequency in Affected Subjects (%, 2134 allele) | Allele Frequency in Controls (%, 406 allele) | PolyPhen-2 | SIFT | Characterization of Variant |
|---|---|---|---|---|---|---|---|---|
| Frameshift mutations (Deletions and insertions) | ||||||||
| c.35insG | G12GfsX36 | - | 0.09 | 0 | Pathogenic | |||
| c.35delG | G12VfsX2 | rs80338939 | 0.09 | 0 | Pathogenic | |||
| c.176_191del16 | G59AfsX18 | - | 0.75 | 0 | Pathogenic | |||
| c.235delC | L79CfsX3 | rs80338943 | - | 13.96 | 0 | Pathogenic | ||
| c.299_300delAT | H100RfsX14 | rs111033204 | - | 2.25 | 0 | Pathogenic | ||
| c.512_513insAACG | A172EfsX39 | - | 0.52 | 0 | Pathogenic | |||
| Nonsense mutation | ||||||||
| c.139G>T | p.E47X | rs104894398 | 100 | 0.09 | 0 | Pathogenic | ||
| Missense mutations | ||||||||
| c.11G>A | p.G4D | rs111033222 | 56.52 | 0.33 | 0 | Benign | Tolerated | Polymorphism |
| c.35G>T | p.G12V | rs1801002 | 100 | 0.05 | 0 | Damaging | Damaging | Pathogenic |
| c.79G>A | p.V27I | rs2274084 | 100 | 25.21 | 22.91 | Damaging | Tolerated | Polymorphism |
| c.88A>G | p.I30V | rs374625633 | 100 | 0.14 | 0 | Benign | Tolerated | Polymorphism |
| c.107T>C | p.L36P | 100 | 0.05 | 0 | Damaging | Damaging | Putative pathogenic | |
| c.109G>A | p.V37I | rs72474224 | 100 | 8.86 | 4.93 | Damaging | Tolerated | Pathogenic |
| c.127G>T b | p.V43L | 100 | 0.05 | 0 | Damaging | Damaging | Putative pathogenic | |
| c.187G>T | p.V63L | 100 | 0.05 | 0 | Damaging | Damaging | Putative pathogenic | |
| c.283G>A | p.V95M | rs111033299 | 91.30 | 0.09 | 0 | Damaging | Damaging | Pathogenic |
| c.293G>Cb | p.R98P | 78.26 | 0.05 | 0 | Damaging | Damaging | Putative pathogenic | |
| c.341A>G | p.E114G | rs2274083 | 91.30 | 19.07 | 15.02 | Benign | Tolerated | Polymorphism |
| c.368C>A | p.T123N | rs111033188 | 39.13 | 0.23 | 0 | Benign | Tolerated | Polymorphism |
| c.427C>T | p.R143W | rs80338948 | 100 | 0.09 | 0 | Damaging | Damaging | Pathogenic |
| c.439G>A | p.E147K | 100 | 0.09 | 0 | Damaging | Damaging | Pathogenic | |
| c.478G>A | p.G160S | rs34988750 | 100 | 0.33 | 0 | Damaging | Tolerated | Polymorphism |
| c.608T>C | p.I203T | rs76838169 | 95.65 | 0.14 | 0 | Damaging | Damaging | Polymorphism |
| Silent variants | ||||||||
| c.81C>T | p.V27 | 100 | 0.05 | 0 | Polymorphism | |||
| c.444C>T | p.A148 | 100 | 0.05 | 0 | Polymorphism | |||
a The conservation index (CI) was calculated by comparing the human amino acid variants with other 22 species (See S1 Table). The CI was then defined as the percentage of species from the list of 23 different species that have the wild-type nucleotide at that position.
b The novel variants.