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Table 1 Mitochondrial DNA variants identified in this study

From: Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation

Gene Mutation Homo/heteroplasmy prelingual HL
(N = 54)
Late-onset HL
(N = 80)
Controls
(N = 137)
freq in controls (%) Japanese
(N = 672)a
freq in Japanese (%) conservation indexb Previous reportc mtDBcM
(N = 2704)
freq in mtDB (%)
12S rRNA 663A > G homoplasmy 3 5 2 1.5 48 7.1 29/51 yes 86 3.2
  709G > A homoplasmy 7 7 12 8.8 125 18.6 19/51 yes 444 16.4
  750A > G homoplasmy 54 80 137 100.0 no data no data 49/51 yes 2682 96.7
  752C > T homoplasmy 0 0 9 6.6 17 2.5 44/51 yes 20 0.7
  827A > G homoplasmy 4 3 3 2.2 25 3.7 48/51 yes 54 2.0
  904C > T homoplasmy 1 0 0 0.0 0 0.0 48/51 none 0 0.0
  961insC homoplasmy 1 0 3 2.2 1 0.1 9/51 yes 37 2.0
  961delT+ Cn both 0 1 4(2)d 2.9 no data no data 9/51 yes no data no data
  1005T > C both 1 1(1) 1 0.7 1 0.1 33/51 yes 7 0.3
  1009C > T homoplasmy 0 0 1 0.7 1 0.1 9/51 yes 2 0.1
  1041A > G homoplasmy 0 4 5 3.6 11 1.6 26/51 yes 14 0.5
  1107T > C homoplasmy 0 0 6 4.4 29 4.3 30/51 yes 34 1.26
  1119T > C homoplasmy 1 2 7 5.1 20 3.0 20/51 yes 26 1.0
  1382A > C homoplasmy 0 1 11 8.0 62 9.2 38/51 yes 65 2.4
  1438A > G homoplasmy 54 80 137 100.0 662 98.5 46/51 yes 2620 96.9
tRNA Ser(UCN) 7501T > A homoplasmy 0 3 0 0.0 1 0.1 15/51 yes 1 0.0
  1. Mitochondrial gene variants that met the criterion for association with hearing loss (HL) are underlined and in bold type. aData from the mtSNP database [48]. bBased on the results of the multiple alignment by ClustalW. See Additional File 1: Table S1 for information on the species used to calculate the sequence conservation. cUppsala mtDB database [50]. dEach number in parentheses indicates the number of individuals with a heteroplasmic variant.