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Table 2 Variants in the mitochondrial 12S rRNA gene in 440 hearing-impaired Han Chinese subjects

From: Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics

Position Replacement Conservation
index (%)a
WC
base-pairsb
Previously
reportedc
Number of
affected subjects
Percentage (%) Number of
controls (number/449)
Percentage (%)
663 A to G 78.6 ↓A-U Yes 15 3.40 5 1.1
681 T to C 85.7 ↓U-A Yes 5 1.13 8 1.8
709 G to A 64.3 ↓G-C Yes 90 20.41 102 22.7
723 A to G 28.6   Yes 2 0.45 2 0.4
735 A to G 78.6   Yes 2 0.45 5 1.11
747 A to G 100 ↓A-U No 1 0.23 0 0
752 C to T 100   Yes 26 6.12 17 3.8
789 T to C 85.7   Yes 1 0.23 1 0.2
813 A to G 28.6   Yes 1 0.23 0 0
827 A to G 92.9   Yes 16 3.63 12 2.7
839 d A to G 78.6 ↓A-U Yes 1 0.23 0 0
929 A to T 42.9 ↓A-U No 1 0.23 0 0
942 A to G 64.3   Yes 1 0.23 0 0
951 G to A 92.9 ↓G-C Yes 2 0.45 2 0.4
953 T to C 57.1   Yes 1 0.23 0 0
961 insC 42.9   Yes 9 2.04 14 3.1
961 T to C 42.9   Yes 2 0.23 4 0.9
980 T to C 64.3 ↓U-A Yes 3 0.68 0 0
990 T to C 71.4 ↓U-A Yes 1 0.23 0 0
1005 T to C 35.7   Yes 21 4.76 22 4.9
1009 C to T 21.4   Yes 6 1.36 8 1.8
1027 A to G 92.9   Yes 1 0.23 0 0
1041 A to G 42.9   Yes 2 0.45 4 0.9
1048 C to T 57.1   Yes 10 2.27 11 2.4
1095 T to C 92.9 ↓U-A Yes 4 0.91 1 0.2
1107 T to C 85.7   Yes 36 8.39 25 5.6
1119 T to C 50.0   Yes 13 2.95 17 3.8
1187 T to C 57.1   Yes 1 0.23 0 0
1282 G to A 71.4   Yes 1 0.23 0 0
1310 C to T 85.7 ↓G-C Yes 1 0.23 0 0
1382 A to C 92.9 ↓A-U Yes 14 3.17 9 2.0
1391 T to C 64.3   Yes 1 0.23 1 0.2
1393 G to A 28.6 ↑A-U Yes 2 0.45 0 0
1413 T to C 78.6 ↑C-G Yes 1 0.23 0 0
1442 G to A 42.9   Yes 1 0.23 0 0
1462 G to A 50.0   Yes 1 0.23 0 0
1494 C to T 78.6 ↑U-A Yes 2 0.45 0 0
1503 G to A 50.0 ↑A-U Yes 1 0.23 0 0
1541 T to C 78.6   Yes 6 1.36 4 0.9
1555 A to G 85.7 ↑A-U Yes 33 7.5 0 0
1598 G to A 50   Yes 12 2.72 9 2.0
  1. aThe conservation index (CI) was then defined as the percentage of the human nucleotide variants with other 14 primates that have the wild-type nucleotide at that position
  2. bClassic Watson-Crick (WC) base pair: created (↑) or abolished (↓).
  3. cSee Ruiz-Pesini E, Wallace DC (2006) and http://www.mitomap.org; http://www.genpat.uu.se/mtDB
  4. dKnown and putative pathogenic variants are indicated in boldface.