Locus | Disease | Allele | Nucleotide Position |
Nucleotide Change |
Amino Acid Change | Homo-plasmy | Hetero-plasmy | Status | References | |
---|---|---|---|---|---|---|---|---|---|---|
MT-ND1 | m.3376G>A | 3376 | G-A | E24K | +/+ | LHON MELAS overlap | Cfrm | 0.000% (0.000%) |
0 (0) | 4 |
MT-ND1 | m.3460G>A | 3460 | G-A | A52T | +/+ | LHON | Cfrm | 0.054% (0.000%) |
31 (0) | 206 |
MT-ND1 | m.3635G>A | 3635 | G-A | S110N | +/- | LHON | Cfrm | 0.016% (0.000%) |
9 (0) | 16 |
MT-ND1 | m.3890G>A | 3890 | G-A | R195Q | -/+ | Progressive Encephalomyopathy / Leigh Syndrome / Optic Atrophy | Cfrm | 0.002% (0.000%) |
1 (0) | 8 |
MT-ND1 | m.3902_3908inv | 3902 | ACCTTGC-GCAAGGT | DLA-GKV | -/+ | EXIT+myalgia / severe LA+cardiac / 3-MGA aciduria / nephropathy+deafness+diabetes | Cfrm | 0.000% (0.000%) |
0 (0) | 6 |
MT-ND1 | m.4171C>A | 4171 | C-A | L289M | +/+ | LHON / Leigh-like phenotype | Cfrm | 0.004% (0.000%) |
2 (0) | 17 |
MT-CO1 | m.7445A>G | 7445 | A-G | term514term | +/+ | SNHL | Cfrm | 0.002% (0.000%) |
1 (0) | 34 |
MT-ATP8/6 | m.8528T>C | 8528 | T-C | ATP8:W55R ATP6:M1T | +/+ | Infantile cardiomyopathy / hyperammonemia | Cfrm | 0.000% (0.000%) |
0 (0) | 8 |
MT-ATP6 | m.8969G>A | 8969 | G-A | S148N | -/+ | Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathy | Cfrm | 0.002% (0.000%) |
1 (0) | 5 |
MT-ATP6 | m.9035T>C | 9035 | T-C | L170P | +/+ | Ataxia syndromes | Cfrm | 0.000% (0.000%) |
0 (0) | 5 |
MT-ATP6 | m.9155A>G | 9155 | A-G | Q210R | -/+ | MIDD, renal insufficiency | Cfrm | 0.000% (0.000%) |
0 (0) | 4 |
MT-ATP6 | m.9176T>G | 9176 | T-G | L217R | +/+ | Leigh Disease / Spastic Paraplegia / Spinocerebellar Ataxia | Cfrm | 0.002% (0.000%) |
1 (0) | 11 |
MT-ATP6 | m.9185T>C | 9185 | T-C | L220P | +/+ | Leigh Disease / Ataxia syndromes / NARP-like disease / Episodic weakness and Charcot-Marie-Tooth | Cfrm | 0.005% (0.000%) |
3 (0) | 34 |
MT-ATP6 | m.9205_9206del | 9205 | TA-del | Ter-M | +/- | Encephalopathy / Seizures / Lacticacidemia | Cfrm | 0.000% (0.000%) |
0 (0) | 9 |
MT-ND3 | m.10191T>C | 10191 | T-C | S45P | -/+ | Leigh Disease / Leigh-like Disease / ESOC | Cfrm | 0.000% (0.000%) |
0 (0) | 27 |
MT-ND3 | m.10197G>A | 10197 | G-A | A47T | +/+ | Leigh Disease / Dystonia / Stroke / LDYT | Cfrm | 0.007% (0.000%) |
4 (0) | 23 |
MT-ND4L | m.10663T>C | 10663 | T-C | V65A | +/- | LHON | Cfrm | 0.004% (0.000%) |
2 (0) | 16 |
MT-ND4 | m.11777C>A | 11777 | C-A | R340S | -/+ | Leigh Disease | Cfrm | 0.000% (0.000%) |
0 (0) | 12 |
MT-ND4 | m.11778G>A | 11778 | G-A | R340H | +/+ | LHON / Progressive Dystonia | Cfrm | 0.329% (0.000%) |
187 (0) | 395 |
MT-ND5 | m.12706T>C | 12706 | T-C | F124L | -/+ | Leigh Disease | Cfrm | 0.000% (0.000%) |
0 (0) | 13 |
MT-ND5 | m.13042G>A | 13042 | G-A | A236T | -/+ | Optic neuropathy/ retinopathy/ LD | Cfrm | 0.002% (0.000%) |
1 (0) | 8 |
MT-ND5 | m.13051G>A | 13051 | G-A | G239S | +/- | LHON | Cfrm | 0.000% (0.000%) |
0 (0) | 4 |
MT-ND5 | m.13094T>C | 13094 | T-C | V253A | +/+ | Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue | Cfrm | 0.002% (0.000%) |
1 (0) | 11 |
MT-ND5 | m.13379A>G | 13379 | A-G | H348R | +/- | LHON | Cfrm | 0.000% (0.000%) |
0 (0) | 2 |
MT-ND5 | m.13514A>G | 13514 | A-G | D393G | -/+ | Leigh Disease / MELAS / Ca2+ downregulation | Cfrm | 0.000% (0.000%) |
0 (0) | 16 |
MT-ND6 | m.14453G>A | 14453 | G-A | A74V | -/+ | MELAS / Leigh Disease | Cfrm | 0.000% (0.000%) |
0 (0) | 10 |
MT-ND6 | m.14482C>A | 14482 | C-A | M64I | +/+ | LHON | Cfrm | 0.004% (0.000%) |
2 (0) | 14 |
MT-ND6 | m.14482C>G | 14482 | C-G | M64I | +/+ | LHON | Cfrm | 0.000% (0.000%) |
0 (0) | 8 |
MT-ND6 | m.14484T>C | 14484 | T-C | M64V | +/+ | LHON | Cfrm | 0.112% (0.000%) |
64 (0) | 217 |
MT-ND6 | m.14487T>C | 14487 | T-C | M63V | -/+ | Dystonia / Leigh Disease / ataxia / ptosis / epilepsy | Cfrm | 0.000% (0.000%) |
0 (0) | 34 |
MT-ND6 | m.14495A>G | 14495 | A-G | L60S | -/+ | LHON | Cfrm | 0.004% (0.000%) |
2 (0) | 12 |
MT-ND6 | m.14568C>T | 14568 | C-T | G36S | +/- | LHON | Cfrm | 0.011% (0.000%) |
6 (0) | 11 |
MT-CYB | m.14849T>C | 14849 | T-C | S35P | -/+ | EXIT / Septo-Optic Dysplasia | Cfrm | 0.000% (0.000%) |
0 (0) | 3 |
MT-CYB | m.15579A>G | 15579 | A-G | Y278C | -/+ | Multisystem Disorder, EXIT | 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 |