Table 6.
Common variants with MutPred score above 0.5 and associated with mtDNA haplogroups found in disease cohorts and the control group.
| Mitochondrial variant | MutPred score | GenBank frequency | Number of T2DM sequences | Number of obesity sequences | Number of atherosclerosis sequences | Number of control sequences | Associated haplogroupsa | Comment |
|---|---|---|---|---|---|---|---|---|
| m.3394T>C | 0.783 | 1.36% | 1 | 4 | 0 | 0 | 8 | haplogroup associated |
| m.4216T>C | 0.611 | 10.01% | 20 | 27 | 24 | 18 | 14 | haplogroup definingb |
| m.4917A>G | 0.628 | 4.75% | 10 | 14 | 14 | 8 | 5 | haplogroup definingb |
| m.5460G>A | 0.505 | 6.23% | 6 | 7 | 10 | 8 | 36 | haplogroup associated |
| m.8414C>T | 0.513 | 4.01% | 0 | 1 | 0 | 2 | 1 | haplogroup associated |
| m.8584G>A | 0.553 | 5.01% | 1 | 0 | 1 | 1 | 5 | haplogroup associated |
| m.11969G>A | 0.639 | 1.34% | 0 | 0 | 1 | 1 | 5 | haplogroup associated |
| m.12811T>C | 0.587 | 1.08% | 1 | 0 | 1 | 0 | 3 | haplogroup associated |
| m.13780A>G | 0.606 | 1.76% | 5 | 4 | 4 | 1 | 1 | haplogroup associated |
| m.14798T>C | 0.609 | 6.76% | 12 | 17 | 10 | 11 | 5 | haplogroup associated |
| m.15204T>C | 0.547 | 1.25% | 0 | 0 | 0 | 1 | 4 | haplogroup associated |
| m.15257G>A | 0.785 | 1.61% | 1 | 1 | 2 | 2 | 3 | haplogroup associated |
| m.15812G>A | 0.518 | 1.02% | 0 | 0 | 1 | 0 | 3 | haplogroup associated |
a
Number of hits in Phylotree.
b
Based on haplogroup markers from Mitomap database.