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Table 2 Missense changes in USH2A

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

Nucleotide change Exon Amino acid change Predicted pathology No. of alleles Ref.
c.373G > A 2 p.A125T - 81 Dreyer et al., 2000
c.130G > A 2 p.G44R + 1 Present Study
c.688G > A 4 p.V230M - 3 Dreyer et al., 2000
c.908G > A 6 p.R303He UV3 1 Yan et al., 2009
c.1144G > A 7 p.V382M b UV3 1 Present Study
c.1434G > C 8 p.E478D - 4 Seyedahmadi et al., 2004
c.1663C > G 10 p.L555V - 2 Bernal et al., 2003
c.1931A > T 11 p.D644V - 6 Weston et al., 2000
c.2137G > C 12 P.G713R UV2 2 Dreyer et al., 2000
c.2276G > T 13 p.C759F + 3 Dreyer et al., 2000
c.2522C > A 13 p.S841Y UV2 1 Jaijo et al., 2009
c.4457G > A 21 p.R1486K - 75 Dreyer et al., 2000
c.4714C > T 22 p.L1572F - 7 Dreyer et al., 2008
c.4994T > C 25 p.I1665T - 31 Kaiserman et al., 2007
c.5975A > G 30 p.Y1992Ce UV3 1 McGee et al., 2010
c.6317T > C 32 p.I2106T - 117 Aller et al., 2006
c.6506T > C 34 p.I2169T - 85 Aller et al., 2006
c.6587G > C 34 p.S2196T UV2 2 Jaijo et al., 2009
c.6713A > C 35 p.E2238A - 1 Aller et al., 2006
c.6875G > A 36 p.R2292H - 2 Dreyer et al., 2008
c.7130A > G 38 p.N2377S UV2 1 Present Study
c.7182C > A 38 p.N2394K UV2 1 Present Study
c.7506G > A 40 p.P2502P - 11 Baux et al., 2008
c.7685T > C 41 p.V2562A - 1 Dreyer et al., 2008
c.7915T > C 41 p.S2639P UV2 3 McGee et al., 2010
c.8624G > A 43 p.R2875Q - 9 Aller et al., 2006
c.8656C > T 43 p.L2886F - 9 Aller et al., 2006
c.9262G > A 47 p.E3088K - 1 Dreyer et al., 2008
c.9296A > G 47 p.N3099S - 12 Aller et al., 2006
c.9343A > G 47 p.T3115A - 9 Dreyer et al., 2008
c.9430G > A 48 p.D3144N - 8 Aller et al., 2006
c.9595A > G 49 p.N3199D - 9 Baux et al., 2007
c.9799T > C 50 p.C3267R + 5 Aller et al., 2006
c.10073G > A 51 p.C3358Y + 1 McGee et al., 2010
c.10232A > C 52 p.E3411A - 94 Aller et al., 2006
c.10636G > A 54 p.G3546R + 4 Present Study
c.11504C > T 59 p.T3835I - 30 Present Study
c.11602A > G 60 p.M3868V - 34 Aller et al., 2006
c.11677C > A 60 p.P3893T - 2 Dreyer et al., 2008
c.11680A > G 60 p.N3894D UV3 1 Present Study
c.12343C > T 63 p.R4115C - 2 van Wijk et al., 2004
c.14074G > A 64 p.G4692Rc UV2 1 McGee et al., 2010
c.14453C > T 66 p.P4818L + 1 Aller et al., 2006
c.14513G > A 66 p.G4838E - 1 McGee et al., 2010
c.14543G > A 66 p.R4848Q - 1 McGee et al., 2010
c.14761G > A 67 p.E4921K UV2 1 Present Study
c.15076A > G 70 p.K5026E UV2 1 McGee et al., 2010
c.15091C > T 70 p.R5031W - 2 Dreyer et al., 2008
  1. +: Denotes pathogenic mutations; UV3: Probably pathogenic mutations; UV2: probably non- pathogenic mutations; - : neutral varirants.
  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. e p.R303H and p.Y1992C were initially described as being pathogenic mutations by Yan et al., 2009 (ref. 29) and McGee et al., 2010 (ref. 30) respectively, but we have classified them as UV3 in accordance with the specific locus database for Usher syndrome: https://grenada.lumc.nl/LOVD2/Usher_montpellier
  6. Novel pathogenic mutations and novel probably pathogenic mutations (UV3) described in this study are in bold.