Table 4.
Variants found in the sequencing of the GJB2 gene.
| Variant found and annotation | Description | Effect | SIFT | Polyphen-2 | Source* | Type of variant |
|---|---|---|---|---|---|---|
| Pathogenic | ||||||
| p.(Trp172*) | Substitution of a guanine by an adenosine at position 516 | Substitution of tryptophan by a stop codon at position 172 | Not evaluable | Not evaluable | Da Vinci | Non-sense |
| p.(Arg75Trp) rs28931 593 | Substitution of a cytosine by a thymine at position 223 | Substitution of arginine by tryptophan at position 75 | 0.0 | 1.0 | Da Vinci 1000 genomes Deafness Variation | Missense |
| p. (Val167Met) rs11103 3360 | Substitution of a guanine by an adenosine at nucleotide position 499 | Substitution of valine by methionine at position 167 | 0.04 | 0.168 | Deafness Variation 1000 genomes (possibly pathogenic) | Missense |
| Non-pathogenic | ||||||
| p.(Val27Ile) rs22740 84 | Substitution of a guanine by an adenosine at position 79 | Substitution of valine by isoleucine at position 27 | 0.21 | 1.0 | Da Vinci 1000 genomes Deafness Variation | Missense |
| p.(Ile196Thr) | Substitution of a cytosine by a thymine at position 587 | Substitution of isoleucine by threonine at position 196 | 0.01 | 0.922 | Benign by Deafness Variation | Missense |
| Variant found and annotation | Description | Effect | SIFT | Polyphen-2 | Source* | Type of variant |
|---|---|---|---|---|---|---|
| Indeterminate | ||||||
| p.(Met34Thr) rs35887622 | Substitution of a thymine by a cytosine at position 101 | Substitution of methionine by threonine at position 34 | 0.01 | 0.38 | DaVinci 1000 genomes Deafness Variation | Missense |
| p.(Lys168Arg) rs2001043 62 | Substitution of an adenosine by a guanine at position 503 | Substitution da lysine by arginine at position168 | 0.29 | 0.074 | Benign by 1000 genomes unknown pathogenicity by Deafness Variation | Missense |
| p.(Arg127Leu) rs1110331 96 | Substitution of a guanine by a thymine at nucleotide position 380 | Substitution of arginine by leucine at position 127 | 0.04 | 0.277 | Pathogenic by Deafness Variation benign by 1000 genomes | Missense |
| Undescribed | ||||||
| p.(Ser199Glnfs*9) | Duplication of the CAGTG segment at position 596 | Substitution of serine by glutamine at position 199 and insertion of a frame shift and stop codon | Not evaluable | Not evaluable | Undescribed | Frame shift |