|
m.150C>T
|
D-loop |
- |
Longevity, cervical carcinoma, HPV infection risk |
9 |
11 |
|
m.195T>C
|
D-loop |
- |
Bipolar disorder-associated |
13 |
11 |
|
m.921T>C
|
12S rRNA |
- |
Possibly left ventricular non-compaction-associated |
0 |
3 |
|
m.961T>C
|
12S rRNA |
- |
DEAF, possibly left ventricular non-compaction-associated |
0 |
1 |
|
m.2352T>C
|
16S rRNA |
- |
Possibly left ventricular non-compaction-associated |
7 |
8 |
|
m.3010G>A
|
16S rRNA |
- |
Cyclic vomiting syndrome with migraine |
4 |
1 |
|
m.3308T>C
|
ND1 |
Met>Thr |
MELAS, DEAF enhancer, hypertension |
3 |
3 |
|
m.3396T>C
|
ND1 |
Syn. |
Non-syndromic hearing loss, maternally inherited DM & deafness |
2 |
0 |
|
m.3866T>C
|
ND1 |
Ile>Thr |
LHON (secondary mutation), limb claudication |
0 |
1 |
|
m.4216T>C
|
ND1 |
Tyr>His |
LHON (secondary mutation), insulin resistance |
1 |
0 |
|
m.5460G>A
|
ND2 |
Ala>Thr |
Alzheimer’s disease, Parkinson’s disease |
1 |
1 |
|
m.5655T>C
|
tRNA Ala |
- |
DEAF enhancer |
3 |
3 |
|
m.6150G>A
|
CO1 |
Val>Ile |
Prostate cancer |
2 |
1 |
|
m.6253T>C
|
CO1 |
Met>Thr |
Prostate cancer |
1 |
0 |
|
m.6480G>A
|
CO1 |
Val>Ile |
Prostate cancer |
1 |
0 |
|
m.6663A>G
|
CO1 |
Ile>Val |
Prostate cancer |
2 |
0 |
|
m.8932C>T
|
ATP6 |
Pro>Ser |
Prostate cancer |
2 |
0 |
|
m.10398A>G
|
ND3 |
Thr>Ala |
PD protective factor, longevity, alt. cell pH, met. syn., breast cancer risk |
21 |
19 |
|
m.11467A>G
|
ND4 |
Syn. |
Altered brain pH |
0 |
1 |
|
m.12236G>A
|
tRNA Ser (2) |
- |
DEAF |
3 |
2 |
|
m.12308A>G
|
tRNA Leu |
- |
CPEO, stroke, CM, breast, renal, prostate cancer risk, alt. brain pH |
0 |
1 |
|
m.12372G>A
|
ND5 |
Syn. |
Altered brain pH |
0 |
1 |
|
m.13135G>A
|
ND5 |
Ala>Thr |
Possible hypertrophic cardiomyopathy association |
1 |
0 |
|
m.13708G>A
|
ND5 |
Ala>Thr |
LHON, increased MS risk, higher frequency in PD and AD |
1 |
2 |
|
m.14319T>C
|
ND6 |
Asn>Asp |
Parkinson’s disease, early onset |
0 |
1 |
|
m.15043G>A
|
CYB |
Syn. |
Major depressive disorder |
0 |
2 |
|
m.15497G>A
|
CYB |
Gly>Ser |
Obesity, exercise intolerance |
0 |
1 |
|
m.15812G>A
|
CYB |
Val>Met |
LHON (secondary mutation) |
0 |
1 |
|
m.15927G>A
|
tRNA Thr |
- |
Multiple sclerosis, DEAF1555 increased penetrance |
0 |
1 |
|
m.15942T>C
|
tRNA Thr |
- |
Possibly left ventricular non-compaction-associated |
2 |
1 |
|
m.16189T>C
|
D-loop |
- |
DM type 2, cardiomyopathy, endometrial cancer risk, mtDNA copy #, met. syn. |
5 |
10 |
|
Total
|
84 |
87 |
|
Mean observations (SD)
|
3.8 (4.5) |
4.0 (4.4) |
|
Transversions (%)
|
0% |
0% |
