Table 1 Variants of COQ2 observed in this study
Exon | Exon 1 | Exon 1 | Exon 1 | Exon 1 | Intron 2 | Exon 2 | Exon 2 | Exon 5 | Exon 5 | Exon 6 | Exon 7 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
rs number | rs183012002 | rs112033303 | rs376396608 | rs6818847 | rs121918233 | rs199581249 | rs6535454 | rs1129617 | rs141431344 | |||||||
Genotypea | c.30G > A | c.64A > T | c.161C > G | c.196G > T | c.403 + 10G > T | c.426A > G | c.437G > A | c.801G > A | c.894 T > C | c.990C > T | c.1107C > T | |||||
Amino acid changeb | p.R10R | p.R22X | p.S54W | p.L66V | Exon1 + 10 | p.P142P | p.S146N | p.A267A | p.D298D | p.S330S | p.Y369Y | |||||
Cases | Cases | Cont. | Cases | Cont. | Cases | Cont. | Cases | Cont. | Cases | Cases | Cont. | Cases | Cases | Cases | Cases | |
Major allele | 154 | 149 | 339 | 154 | 360 | 87 | 175 | 154 | 360 | 154 | 154 | 360 | 154 | 85 | 89 | 154 |
Heterozygous allele | 1 | 5 | 20 | 1 | 0 | 54 | 146 | 1 | 0 | 1 | 1 | 0 | 1 | 64 | 59 | 1 |
Minor allele | 0 | 1 | 1 | 0 | 0 | 14 | 39 | 0 | 0 | 0 | 0 | 0 | 0 | 6 | 7 | 0 |
Total | 155 | 155 | 360 | 155 | 360 | 155 | 360 | 155 | 360 | 155 | 155 | 360 | 155 | 155 | 155 | 155 |
MAF (%) | 0.3 | 2.3 | 3.1 | 0.3 | 0 | 26.5 | 31.1 | 0.3 | 0 | 0.3 | 0.3 | 0 | 0.3 | 24.5 | 23.5 | 0.3 |
OR (95% CI) | NA | 0.65 (0.0.21, 1.71) | NA | 0.74 (0.50, 1.10) | NA | NA | NA | NA | NA | NA | NA | |||||
P-value | NA | 0.51 | 0.30 | 0.12 | 0.30 | NA | 0.30 | NA | NA | NA | NA | |||||
PolyPhen-2 | NA | NA | Benign | Benign | NA | NA | Probably damaging | NA | NA | NA | NA | |||||
SIFT | Tolerated | NA | Tolerated | Tolerated | NA | Tolerated | Damaging | Tolerated | Tolerated | Tolerated | Tolerated | |||||