Table 3.
Prevalence of mtDNA mutations identified in hPSC-CMs using MITOMAP database. Green, potential HCM protective variants; red, potential HCM aggravator variants.
| mtDNA Mutation | Variant Type | Percent Variant Frequency (Full Length Sequences) | Percent Variant Frequency (Control Region Sequences) | Found at Haplogroups at 50% or Higher |
|---|---|---|---|---|
| m.152T > C | Local | 26.5 | 17.6 | Yes |
| m.309_310insCT | Global | 26.4 | 16.4 | Yes |
| m.309_310insCCT | Global | 7.1 | 4.9 | Yes |
| m.309_310insCCCT | Global | 0.1 | 0.2 | No |
| m.310T > C | Local | 40.7 | 27.8 | Yes |
| m.310_311_insC | Global | 0.0 | 0.0 | No |
| m.514_515delCA | Global | 24.2 | 1.7 | No |
| m.8952T > C | Local | 0.0 | N/A | No |
| m.12715A > G | Local | 0.1 | N/A | No |
| m.16319G > A | Local | 5.9 | 8.0 | Yes |