Table 3. Potential pathogenic mutations located in the highlander-specific lineages.
| highlander-specific haplogroup | Potential pathogenic mutationa | Gene | CI | Mutpred Score | Potential diseaseb |
|---|---|---|---|---|---|
| G3b3a | T3394C* | ND1(Y30H) | 0.942 | 0.783 | LHON/NIDDM/CPT deficiency |
| M33b1a1 | A636G | tRNAPhe | 0.673 | N.A. | DEAF |
| T9101C | ATP6(I192T) | 0.346 | 0.568 | LHON | |
| M62 | G13708A | ND5(A458T) | 0.365 | 0.409 | LHON/Increased MS risk/higher frequency in PD-ADS |
| M7b1a1j | C1192A | 12s rRNA | 0.827 | N.A. | DEAF-associated |
| A3397G | ND1(M31V) | 1.000 | 0.723 | PD, AD/Possibly LVNC-cardiomyopathy associated | |
| C7a1a2 | G7598A | COX2(A5T) | 0.865 | 0.342 | Possible LHON helper |
| G13708A | ND5(A458T) | 0.365 | 0.409 | LHON/Increased MS risk/higher frequency in PD-ADS | |
| Z7 | T2352C | 16s rRNA | 0.058 | N.A. | Possibly LVNC-associated |
| T4363C | tRNAGln | 0.750 | N.A. | Possibly associated with DEAF + RP + developmental delay/hypertension | |
| M9a1a1c1b | G7697A* | COX2(V38I) | 0.981 | 0.646 | Possible HCM susceptibility |
| M9a1b1c | T10454C* | tRNAArg | 0.692 | N.A. | DEAF helper mutation |
| A11a | T1005C | 12s rRNA | 0.250 | N.A. | DEAF |
| A15c1a | T4216C | ND1(Y304H) | 0.712 | 0.611 | LHON/Insulin Resistance |
| A15924G* | tRNAThr | 0.865 | N.A. | LIMM | |
| N11a1 | A12634G | ND5(I100V) | 1.000 | 0.381 | Thyroid Cancer Cell Line |
a*Also significant in site-based association analysis.
bconsulted to MITOMAP database. LHON: Leber’s hereditary optic neuropathy; NIDDM: non-insulin-dependent diabetes mellitus; CPT: carnitine palmitoyl transferase; DEAF: deafness; MS: multiple sclerosis; PD: Parkinson’s disease; AD: Alzheimer’s Dementia; LVNC: left ventricular non-compaction cardiomyopathy; RP: retinitis pigmentosa; HCM: hypertrophic cardiomyopathy; LIMM: lethal infantile mitochondrial myopathy.