Table 1 USH2A truncating and splice-site mutations
From: Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
Nucleotide change | Exon | Predicted effect | Predicted pathology | No. of alleles | References |
|---|---|---|---|---|---|
Nonsense mutations | |||||
c.820C > T | 5 | p.R274X | + | 2 | Present study |
c.1518T > A | 8 | p.Y506X | + | 1 | Bernal et al., 2005 |
c.3883C > T | 18 | p.R1295X | + | 1 | Dreyer et al., 2000 |
c.4474G > T | 21 | p.E1492X | + | 2 | Bernal et al., 2005 |
c.4645C > T | 22 | p.R1549X | + | 1 | Baux et al., 2007 |
c.7854G > C | 41 | p.W2618X | + | 1 | Present study |
c.9753T > A | 50 | p.C3251X | + | 2 | Present study |
c.10102C > T | 51 | p.Q3368X a | + | 1 | Present study |
c.10759C > T | 55 | p.Q3587X | + | 2 | Baux et al., 2007 |
c.11146C > T | 57 | p.Q3716X | + | 1 | Present study |
c.14175G > A | 65 | P.W4725X | + | 1 | Present study |
Deletions and insertions | |||||
c.918_919insGCTG | 6 | p.S307AfsX17 | + | 1 | Present study |
c.1214delA | 7 | p.N405IfsX3 | + | 5 | Bernal et al., 2005 |
c.1629_1645del | 10 | p.F543LfsX2 | + | 1 | Present study |
c.2299delG | 13 | p.E767SfsX21 | + | 8 | Eudy et al., 1998 |
c.5278delG | 26 | p.D1760MfsX10 a | + | 1 | Present study |
c.5540_5541dup | 27 | p.N1848X | + | 1 | Present study |
c.6319_6324delinsTAAA | 32 | p.V2107X | + | 1 | Present study |
c.8890dupT | 45 | p.W2964LfsX89 | + | 1 | Present study |
c.8954delG | 45 | p.G2985AfsX3 | + | 1 | Present study |
c.9261delT | 47 | p.E3088KfsX9 | + | 1 | Present study |
c.10272_10273dupTT | 52 | p.C3425FfsX4 | + | 1 | Aller et al., 2006 |
c.11566delA | 60 | p.S3856VfsX28 | + | 1 | Present study |
c.12093delC | 62 | p.Y4031X | + | 1 | Present study |
c.13140delA | 63 | p.V4381CfsX10 | + | 1 | Present study |
Splice-site mutations | |||||
c.1328 + 1G > T | IVS7 | Ex7 splice defect | + | 1 | Present study |
c.1841-2A > G | IVS10 | Ex11 splice defect | + | 2 | Bernal et al., 2003 |
c.11548 + 2T > G | IVS59 | Ex59 splice defect | + | 1 | Present study |
c.12067-2A > G | IVS61 | Ex62 splice defect | + | 4 | Auslender et al., 2008 |
c.15053-1G > A | IVS69 | Ex70 splice defect | + | 1 | Present study |