Table 2. Low-heteroplasmic variants identified using Duplex Sequencing in the whole mtDNA of breast normal epithelial cells developed from women (ID#11, #30, #31).
| Mt gene | DNA variant | Amino acid change | Previously reported (GB freq, %)* | Tissues or diseases reported |
|---|---|---|---|---|
| A. Common variants in all sets of non-stem cells from three women | ||||
| ND1 | A3511C | T69P | No | New variant |
| B. Common variants in all sets of stem cells from three women | ||||
| Non-coding | T310C | None | Yes (32.69%) | Parkinson's disease, hereditary optic neuropathy |
| ND1 | A3447C | Q47H | No | New variant |
| ATP8 | A8512C | K49N | No | New variant |
| C. Common variants found in all sets of both non-stem and stem cells from three women | ||||
| None | ||||
| D. Variants found only in all sets of non-stem, but not in stem cells | ||||
| None | ||||
| E. Variants found only in all sets of stem cells, but not in non-stem cells | ||||
| None | ||||
* The gene bank (GB) frequency data is derived from 26850 GeneBank sequences with size greater than 14kbp (www.mitomap.org).