Table 2.
Mutations Identified in Twelve Pakistani Families with Hearing Loss
| Family | Gene | Transcript ID | cDNA | Predicted protein effect | ExAC(OAF) | PhyloP | GERP++ | SIFT/Polyphen2/mutation taster | References |
|---|---|---|---|---|---|---|---|---|---|
| F1 | MYO7A | NM_000260 | c. 1954 T > C | p. Cys652Arg | 0 | 1.972 | 5.21 | D/D/D | Novel |
| c. 4184dupA | p. Gln1395Thrfs*9 | 0 | NA | NA | NA/NA/NA | Novel | |||
| F2 | SLC26A4 | NM_000441 | c. 679 G > C | p. Ala227Pro | 0 | 2.536 | 5.41 | D/D/D | Jiang et al. (2010) |
| F3 | SLC26A4 | NM_000441 | c. 304 + 2 T > C | p. Met103Lysfs*4 | 0.000008237 | NA | NA | NA/NA/D | Anwar et al. (2009) |
| F4 | SLC26A4 | NM_000441 | c. 1667 A > G | p. Tyr556Cys | 0.00002487 | 2.117 | 5.51 | D/D/D | Coyle et al. (1998) |
| F5 | ESPN | NM_031475 | c. 2519G > A | p. Trp840* | 0 | 1.945 | 4.32 | NA/NA/D | Novel |
| F6 | MYO7A | NM_000260 | c. 2367 + 1G > C | NA | 0 | 2.272 | 4.87 | NA/NA/D | Novel |
| F7 | LRTOMT | NM_001145308 | c. 154C > T | p. Arg52Trp | 0 | 0.085 | 0.993 | D/D/N | Novel |
| F8 | GJB2 | NM_004004 | c. 35del G | p. Gly12Valfs*2 | 0.006040 | NA | NA | NA/NA/NA | Zelante et al. (1997) |
| F9 | PCDH15 | NM_001142769 | c. 4726 C > T | p. Gln1576* | 0 | 0.188 | 0.931 | NA/NA/D | Novel |
| F10 | LHFPL5 | NM_182548 | c. 246del C | p. Gly82Glyfs*3 | 0 | NA | NA | NA/NA/NA | Shabbir et al. (2006) |
| F11 | EPS8L2 | NM_022772 | c.737delC | p. Ala246Alafs*6 | 0 | NA | NA | NA/NA/NA | Novel |
| F12 | USH2A | NM_206933 | c.10510 C > G | p. Pro3504Ala | 0.001964 | 0.562 | 3.3 | T/B/D | van Huet et al. (2015) |
| c.8431 C > A | p. Pro2811Thr | 0.0003544 | 2.731 | 5.79 | T/D/D | Novel |
ExAC, exome aggregation consortium; OAF, overall allele frequency; NA, not available; D, deleterious; N, neutral; T, tolerated; B, benign.