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Table 1 Possible pathologic and uncertain variants found in this study

From: High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss

Number in probands (in 346 allele)
Types of variants Location Amino acid change Nucleotide change Genomic position(Chr10) Domain Evolutionary conservation* Homozygote Compound heterozygote Heterozygote Allele frequency in normal controls Allele frequency in ESP6500 dbSNP135 PolyPhen2 score PROVEAN score Novel or Known Reference
Missense Exon 7 p.P240L c.719C > T 73330641 EC3 11/11, 44/44, 40/40 4 7 6 0/192 0 rs121908354 0.999 −3.051 Known [12]
  Exon 11 p.P346S c.1036C > T 73377052 - 12/12, 42/42, 41/41 0 1 0 0/192 0 None 0.989 −5.768 Known [27]
  Exon 16 p.G539D c.1616G > A 73437314 EC5 12/12, 43/43, 42/42 0 1 0 0/190 0 None 0.092 −4.272 Novel  
  Exon 18 p.D645G c.1934A > G 73442277 EC6 12/12, 45/45, 42/42 0 1 0 0/192 0 None 1.000 −5.596 Novel  
  Exon 25 p.E956K c.2866G > A 73464800 EC9 12/12, 45/45, 42/42 0 4 0 0/192 0 None 0.999 −2.939 Known [14]
  Exon 35 p.R1417W c.4249C > T 73498294 EC13 12/12, 32/44, 0/40 0 0 1 0/192 0 None 0.453 −1.346 Known [12]
  Exon 39 p.D1626A c.4877A > C 73537468 EC15 12/12, 45/45, 41/42 0 1 0 0/192 0 None 0.952 −5.3 Known [14]
  Exon 39 p.Q1716P c.5147A > C 73538025 EC16 12/12, 45/45, 40/41 0 2 0 0/192 0 None 0.972 −2.68 Known [12]
  Exon 46 p.R2029W c.6085C > T 73550924 EC19 12/12, 45/45, 39/40 0 2 2 0/192 0 None 0.999 −4.659 Known [12]
  Exon 52 p.E2438K c.7312G > A 73559336 EC23 12/12, 43/44, 15/41 0 2 0 0/192 0 None 0.314 −0.383 Known [14]
  Exon 53 p.L2473P c.7418 T > C 73560448 EC23 11/11, 45/45, 36/36 0 0 1 0/192 0 None 0.998 −5.603 Known [12]
  Exon 53 p.R2489H c.7466G > A 73560496 EC23 12/12, 45/45, 36/36 0 0 1 0/192 0 rs141986620 0.459 −1.219 Known [12]
Frameshift Exon 48 p.L2223Wfs c.6667del C 73553352 - - 0 1 0 0/192 0 None - - Novel  
  Exon 63 p.N3044Tfs c.9129 del G 73571123 - - 0 1 0 0/190 0 None - - Novel  
Putative spice site IVS11 - c.1135-1G > T 73403617 - 12/12, 41/41, 4/4 0 0 1 0/192 0 None - - Novel  
  IVS48 - c.6712 + 1G > A 73553398 - 712/12, 44/44, 41/41 0 1 0 0/192 0 None - - Known [11]
Uncertain pathogenicity variants
Missense Exon 13 p.V424M c.1270G > A 73405717 EC4 12/12, 44/45, 0/36 0 0 1 0/190 0 rs2305207 0.557 −0.572 Novel  
  Exon 13 p.D428N c.1282G > A 73405729 EC4 12/12, 39/45, 0/36 0 0 4** 0/190 0 rs188376296 0.103 −0.045 Novel  
  Exon 35 p.I1406V c.4216A > G 73498261 EC13 12/12, 43/44, 40/40. 0 0 1 1/189 0 rs192459984 0.029 −0.304 Novel  
  Exon 38 p.G1583S c.4747G > A 73501580 EC15 12/12, 44/44, 41/43 0 0 1 0/192 0 None 1.000 −4.967 Novel  
  Exon 40 p.V1711I c.5131G > A 73538009 EC16 12/12, 29/45, 11/41 0 0 1 1/192 1/12645 rs181611778 0.998 −0.599 Known [12]
  Exon 42 p.G1799W c.5395G > T 73544070 EC17 11/11, 45/45, 42/43 0 0 1** 0/192 0 None 0.998 −6.237 Novel  
  Exon 44 p.V1908I c.5722G > A 73545397 EC9 11/12, 28/45, 33/41 0 0 1 0/192 0 None 0.005 0.125 Known [14]
  Exon 48 p.D2202E c.6606C > A 73553291 EC21 12/12, 45/45, 41/42 0 0 1** 0/190 0 None 1.000 −3.068 Known [28]
  Exon 48 p.Q2227P c.6680A > C 73553365 EC21 12/12, 44/44, 23/41 0 0 1 0/192 0 None 0.729 −0.775 Known [29]
  Exon 57 p.D2717N c.8149G > A 73566009 EC25 12/12, 45/45, 42/42 0 0 1** 0/190 0 None 0.999 −1.909 Novel  
  Exon 61 p.G2912S c.8734G > A 73569588 EC27 11/11, 45/45, 42/42 0 0 1 0/192 0 None 0.774 −2.221 Known [14]
  Exon 70 p.V3343M c.10027G > A 73574997 - 12/12, 45/45, 16/37 0 0 1** 0/188 0 None 0.670 −0.427 Novel  
Putative splice site IVS2 - c.68-3C > T 73206072 - 12/12, 40/44, 18/19 0 0 1 0/188 0 rs142456469 - - Novel  
  IVS7 - c.625-5C > T 73330542 - 11/12, 41/44, 0/40 0 0 1 0/192 0 None - - Novel  
  IVS52 - c.7362 + 10G > A 73559396 - 12/12, 11/42, 5/20 0 0 1 0/192 0 None - - Novel  
  1. *Evolutionary conservation showed up to 12 primates, 45 mammals, and 43 vertebrates, respectively.
  2. **Combination of uncertain pathogenicity variants were counted as heterozygotes, not as compound heterozygotes.