Locus | Disease | Allele | Nucleotide Position |
Nucleotide Change |
Amino Acid Change | Homo-plasmy | Hetero-plasmy | Status | References | ||
---|---|---|---|---|---|---|---|---|---|---|---|
3376 | MT-ND1 | LHON MELAS overlap | G3376A | G-A | E-K | + | + | Cfrm | 0.000% (0.000%) |
0 (0) | 3 |
3460 | MT-ND1 | LHON | G3460A | G-A | A-T | + | + | Cfrm | 0.060% (0.000%) |
31 (0) | 170 |
3635 | MT-ND1 | LHON | G3635A | G-A | S-N | + | - | Cfrm | 0.017% (0.000%) |
9 (0) | 13 |
3697 | MT-ND1 | MELAS / Leigh Syndrome / LDYT / BSN | G3697A | G-A | G-S | + | + | Cfrm | 0.000% (0.000%) |
0 (0) | 15 |
3700 | MT-ND1 | LHON | G3700A | G-A | A-T | + | - | Cfrm | 0.006% (0.000%) |
3 (0) | 5 |
3733 | MT-ND1 | LHON | G3733A | G-A | E-K | + | + | Cfrm | 0.004% (0.000%) |
2 (0) | 9 |
3890 | MT-ND1 | Progressive Encephalomyopathy / Leigh Syndrome / Optic Atrophy | G3890A | G-A | R-Q | - | + | Cfrm | 0.002% (0.000%) |
1 (0) | 7 |
3902 | MT-ND1 | EXIT+myalgia / severe LA+cardiac / 3-MGA aciduria | 3902_3908inv | ACCTTGC-GCAAGGT | DLA-GKV | - | + | Cfrm | 0.000% (0.000%) |
0 (0) | 3 |
4171 | MT-ND1 | LHON / Leigh-like phenotype | C4171A | C-A | L-M | + | + | Cfrm | 0.004% (0.000%) |
2 (0) | 11 |
7445 | MT-CO1 | SNHL | A7445G | A-G | Term-Term | + | + | Cfrm | 0.002% (0.000%) |
1 (0) | 33 |
8528 | MT-ATP8/6 | Infantile cardiomyopathy | T8528C | T-C | ATP8:W-R ATP6:M-T | + | + | Cfrm | 0.000% (0.000%) |
0 (0) | 4 |
8851 | MT-ATP6 | BSN / Leigh syndrome | T8851C | T-C | W-R | + | + | Cfrm | 0.006% (0.000%) |
3 (0) | 9 |
8969 | MT-ATP6 | Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathy | G8969A | G-A | S-N | - | + | Cfrm | 0.000% (0.000%) |
0 (0) | 6 |
8993 | MT-ATP6 | NARP / Leigh Disease / MILS / other | T8993C | T-C | L-P | - | + | Cfrm | 0.004% (0.000%) |
2 (0) | 45 |
8993 | MT-ATP6 | NARP / Leigh Disease / MILS / other | T8993G | T-G | L-R | + | + | Cfrm | 0.012% (0.000%) |
6 (0) | 152 |
9035 | MT-ATP6 | Ataxia syndromes | T9035C | T-C | L-P | + | + | Cfrm | 0.000% (0.000%) |
0 (0) | 5 |
9155 | MT-ATP6 | MIDD, renal insufficiency | A9155G | A-G | Q-R | - | + | Cfrm | 0.000% (0.000%) |
0 (0) | 3 |
9176 | MT-ATP6 | FBSN / Leigh Disease | T9176C | T-C | L-P | + | + | Cfrm | 0.006% (0.000%) |
3 (0) | 31 |
9176 | MT-ATP6 | Leigh Disease / Spastic Paraplegia | T9176G | T-G | L-R | + | + | Cfrm | 0.002% (0.000%) |
1 (0) | 11 |
9185 | MT-ATP6 | Leigh Disease / Ataxia syndromes / NARP-like disease | T9185C | T-C | L-P | + | + | Cfrm | 0.006% (0.000%) |
3 (0) | 24 |
9205 | MT-ATP6 | Encephalopathy / Seizures / Lacticacidemia | 9205_9206delTA | TA-del | Ter-M | + | - | Cfrm | 0.000% (0.000%) |
0 (0) | 9 |
10158 | MT-ND3 | Leigh Disease / MELAS | T10158C | T-C | S-P | + | + | Cfrm | 0.000% (0.000%) |
0 (0) | 29 |
10191 | MT-ND3 | Leigh Disease / Leigh-like Disease / ESOC | T10191C | T-C | S-P | - | + | Cfrm | 0.000% (0.000%) |
0 (0) | 26 |
10197 | MT-ND3 | Leigh Disease / Dystonia / Stroke / LDYT | G10197A | G-A | A-T | + | + | Cfrm | 0.008% (0.000%) |
4 (0) | 22 |
10663 | MT-ND4L | LHON | T10663C | T-C | V-A | + | - | Cfrm | 0.004% (0.000%) |
2 (0) | 15 |
11777 | MT-ND4 | Leigh Disease | C11777A | C-A | R-S | - | + | Cfrm | 0.000% (0.000%) |
0 (0) | 12 |
11778 | MT-ND4 | LHON / Progressive Dystonia | G11778A | G-A | R-H | + | + | Cfrm | 0.357% (0.000%) |
185 (0) | 323 |
12706 | MT-ND5 | Leigh Disease | T12706C | T-C | F-L | - | + | Cfrm | 0.000% (0.000%) |
0 (0) | 12 |
13042 | MT-ND5 | Optic neuropathy/ retinopathy/ LD | G13042A | G-A | A-T | - | + | Cfrm | 0.002% (0.000%) |
1 (0) | 8 |
13051 | MT-ND5 | LHON | G13051A | G-A | G-S | + | - | Cfrm | 0.000% (0.000%) |
0 (0) | 3 |
13094 | MT-ND5 | Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue | T13094C | T-C | V-A | + | + | Cfrm | 0.002% (0.000%) |
1 (0) | 9 |
13379 | MT-ND5 | LHON | A13379C | A-C | H-P | + | - | Cfrm | 0.000% (0.000%) |
0 (0) | 2 |
13513 | MT-ND5 | Leigh Disease / MELAS / LHON-MELAS Overlap Syndrome / negative association w Carotid Atherosclerosis | G13513A | G-A | D-N | - | + | Cfrm | 0.002% (0.000%) |
1 (0) | 44 |
13514 | MT-ND5 | Leigh Disease / MELAS / Ca2+ downregulation | A13514G | A-G | D-G | - | + | Cfrm | 0.000% (0.000%) |
0 (0) | 15 |
14459 | MT-ND6 | LDYT / Leigh Disease / dystonia / carotid atherosclerosis risk | G14459A | G-A | A-V | + | + | Cfrm | 0.006% (0.000%) |
3 (0) | 39 |
14482 | MT-ND6 | LHON | C14482A | C-A | M-I | + | + | Cfrm | 0.004% (0.000%) |
2 (0) | 13 |
14482 | MT-ND6 | LHON | C14482G | C-G | M-I | + | + | Cfrm | 0.000% (0.000%) |
0 (0) | 6 |
14484 | MT-ND6 | LHON | T14484C | T-C | M-V | + | + | Cfrm | 0.121% (0.000%) |
63 (0) | 178 |
14487 | MT-ND6 | Dystonia / Leigh Disease / ataxia / ptosis / epilepsy | T14487C | T-C | M-V | - | + | Cfrm | 0.000% (0.000%) |
0 (0) | 28 |
14495 | MT-ND6 | LHON | A14495G | A-G | L-S | - | + | Cfrm | 0.004% (0.000%) |
2 (0) | 8 |
14568 | MT-ND6 | LHON | C14568T | C-T | G-S | + | - | Cfrm | 0.012% (0.000%) |
6 (0) | 11 |
14849 | MT-CYB | EXIT / Septo-Optic Dysplasia | T14849C | T-C | S-P | - | + | Cfrm | 0.000% (0.000%) |
0 (0) | 3 |
15579 | MT-CYB | Multisystem Disorder, EXIT | A15579G | A-G | Y-C | - | + | Cfrm | 0.000% (0.000%) |
0 (0) | 5 |
LHON | Leber Hereditary Optic Neuropathy | MM | Mitochondrial Myopathy |
AD | Alzeimer's Disease | LIMM | Lethal Infantile Mitochondrial Myopathy |
ADPD | Alzeimer's Disease and Parkinsons's Disease | MMC | Maternal Myopathy and Cardiomyopathy |
NARP | Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease | FICP | Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy |
MELAS | Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes | LDYT | Leber's hereditary optic neuropathy and DYsTonia |
MERRF | Myoclonic Epilepsy and Ragged Red Muscle Fibers | MHCM | Maternally inherited Hypertrophic CardioMyopathy |
CPEO | Chronic Progressive External Ophthalmoplegia | KSS | Kearns Sayre Syndrome |
DM | Diabetes Mellitus | DMDF | Diabetes Mellitus + DeaFness |
CIPO | Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia | DEAF | Maternally inherited DEAFness or aminoglycoside-induced DEAFness |
PEM | Progressive encephalopathy | SNHL | SensoriNeural Hearing Loss |