Table 3 Mutation sites of mtDNA in MIEH individuals and controls
Site of mutation | Gene | Replacement | Number of mutations(n) | Fisher’s exact P value | Conservation (H/B/M/X)a | Previously reportedb | Change of Amino acid | |
|---|---|---|---|---|---|---|---|---|
(MIEH) | (Controls) | |||||||
8020 | COXII | G to A | 1 | 0 | 1 | G/T/C/G | Yes | non-synonymous variant |
8027 | COXII | G to A | 4 | 2 | 0.686 | G/C/C/A | Yes | non-synonymous variant |
8078 | COXII | G to A | 2 | 1 | 1 | G/G/A/C | Yes | non-synonymous variant |
8149 | COXII | A to G | 3 | 1 | 0.624 | A/A/C/T | Yes | non-synonymous variant |
8152 | COXII | G to A | 2 | 0 | 0.499 | G/A/C/C | Yes | non-synonymous variant |
8176 | COXII | T to C | 2 | 0 | 0.499 | T/A/C/T | Yes | non-synonymous variant |
8200 | COXII | T to C | 5 | 1 | 0.216 | T/T/T/C | Yes | non-synonymous variant |
8251 | COXII | G to A | 6 | 1 | 0.123 | G/T/T/T | Yes | non-synonymous variant |
8269 | COXII | G to A | 2 | 1 | 1 | G/A/A/C | Yes | non-synonymous variant |
8348 | tRNALys | A to G | 2 | 0 | 0.499 | A/T/T/G | Yes | non-synonymous variant |
8380 | ATP8 | T to C | 1 | 0 | 1 | T/T/C/C | No | non-synonymous variant |
8392 | ATP8 | G to A | 2 | 0 | 0.499 | G/A/T/T | Yes | non-synonymous variant |
8414 | ATP8 | C to T | 60 | 7 | 9.883e-13 | C/T/A/T | Yes | non-synonymous variant |
8440 | ATP8 | A to G | 1 | 0 | 1 | A/C/C/T | Yes | non-synonymous variant |
8452 | ATP8 | A to G | 1 | 0 | 1 | A/A/G/T | No | non-synonymous variant |
8459 | ATP8 | A to G | 4 | 1 | 0.373 | A/T/C/G | No | non-synonymous variant |
8467 | ATP8 | C to T | 2 | 0 | 0.499 | C/A/T/T | No | non-synonymous variant |
8470 | ATP8 | A to G | 2 | 0 | 0.499 | A/C/A/T | Yes | non-synonymous variant |
8473 | ATP8 | T to C | 4 | 1 | 0.373 | T/A/A/C | Yes | non-synonymous variant |
8557 | ATP8 | G to A | 1 | 0 | 1 | G/C/G/T | Yes | non-synonymous variant |
8563 | ATP8 | A to G | 4 | 1 | 0.373 | A/T/G/C | Yes | non-synonymous variant |
8563 | ATP8 | A to T | 1 | 0 | 1 | A/T/G/C | No | non-synonymous variant |
8584 | ATP6 | G to A | 46 | 5 | 5.188e-10 | G/T/C/A | Yes | non-synonymous variant |
8593 | ATP6 | A to G | 1 | 0 | 1 | A/C/C/A | No | non-synonymous variant |
8654 | ATP6 | T to C | 1 | 0 | 1 | T/A/A/G | Yes | non-synonymous variant |
8656 | ATP6 | A to G | 3 | 1 | 0.624 | A/G/C/T | No | non-synonymous variant |
8684 | ATP6 | C to T | 9 | 2 | 0.063 | C/G/T/T | Yes | non-synonymous variant |
8701 | ATP6 | A to G | 49 | 6 | 3.445e-10 | A/A/T/A | Yes | non-synonymous variant |
8723 | ATP6 | G to A | 1 | 0 | 1 | G/A/A/T | No | non-synonymous variant |
8190 | COXII | C to T | 1 | 0 | 1 | C/T/A/A | No | synonymous variant |
8343 | tRNALys | A to G | 2 | 0 | 0.499 | A/T/A/C | Yes | synonymous variant |
8403 | ATP8 | T to C | 1 | 0 | 1 | T/A/G/C | No | synonymous variant |
8409 | ATP8 | C to T | 3 | 1 | 0.624 | C/T/A/T | No | synonymous variant |
8448 | ATP8 | T to C | 2 | 0 | 0.499 | T/A/C/G | Yes | synonymous variant |
8503 | ATP8 | T to C | 1 | 0 | 1 | T/T/T/T | Yes | synonymous variant |
8604 | ATP6 | T to C | 1 | 0 | 1 | T/C/A/A | Yes | synonymous variant |
8614 | ATP6 | T to C | 1 | 0 | 1 | T/T/A/T | Yes | synonymous variant |
8643 | ATP6 | C to T | 1 | 0 | 1 | C/C/C/T | No | synonymous variant |
8745 | ATP6 | A to G | 1 | 0 | 1 | A/A/C/G | No | synonymous variant |
8749 | ATP6 | T to C | 1 | 0 | 1 | T/A/T/T | Yes | synonymous variant |