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Table 3 Silent variants in USH2A

From: Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

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.E2496E b + 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
  1. +: Denotes pathogenic mutations; UV2: probably non- pathogenic mutations; - : neutral variants.
  2. No. of alleles: Number of alleles identified in patients.
  3. bThese variant may alter normal splicing.
  4. cPatient with this change also has two other clearly pathogenic mutations in USH2A.
  5. Novel pathogenic mutations described in this study are in bold.