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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
  1. +: Denotes pathogenic mutations.
  2. No. of alleles: Number of alleles identified in patients.
  3. aThese two mutations are allelic.
  4. Novel pathogenic mutations described in this study are in bold.