Table 3.
Silent variants in USH2A
| Nucleotide change | Exon | Amino acid position | Predicted pathology | No. of alleles | Ref. |
|---|---|---|---|---|---|
| c.504A > G | 3 | p.T168T | - | 75 | Baux et al., 2008 |
| c.1179A > G | 7 | p.Q393Q | - | 1 | Aller, 2008 |
| c.1419C > T | 8 | p.T473T | - | 36 | Dreyer et al., 2000 |
| c.2109T > C | 12 | p.D703D | - | 7 | Weston et al., 2000 |
| c.2256T > C | 13 | p.H752H | - | 3 | Dreyer et al., 2008 |
| c.3945T > C | 18 | p.N1315N | UV2 | 3 | Present Study |
| c.4371G > A | 20 | p.S1457S | - | 1 | Dreyer et al., 2000 |
| c.5031C > A | 25 | p.G1671G | - | 22 | Aller et al., 2006 |
| c.5751C > T | 28 | p.Y1917Y | UV2 | 1 | McGee et al., 2010 |
| c.7488A > G | 40 | p.E2496Eb | + | 1 | Present Study |
| c.7506G > A | 40 | p.P2502P | - | 11 | McGee et al., 2010 |
| c.11736G > A | 61 | p.E3912E | - | 2 | Dreyer et al., 2008 |
| c.11907A > T | 61 | p.P3969P | - | 2 | Dreyer et al., 2008 |
| c.11946A > T | 61 | p.L3982L | - | 29 | Dreyer et al., 2008 |
| c.12093C > T | 62 | p.Y4031Y | - | 1 | Dreyer et al., 2008 |
| c.12612A > G | 63 | p.T4204T | - | 129 | Dreyer et al., 2008 |
| c.12666A > G | 63 | p.T4222T | - | 58 | Dreyer et al., 2008 |
| c.13191G > A | 63 | p.E4397E | - | 23 | Dreyer et al., 2008 |
| c.14481C > T | 66 | p.A4827A | - | 1 | McGee et al., 2010 |
| c.14664G > A | 67 | p.T4888T | UV2 | 1 | Present Study |
+: Denotes pathogenic mutations; UV2: probably non- pathogenic mutations; - : neutral variants.
No. of alleles: Number of alleles identified in patients.
bThese variant may alter normal splicing.
cPatient with this change also has two other clearly pathogenic mutations in USH2A.
Novel pathogenic mutations described in this study are in bold.