Locus | Disease | Allele | RNA | Homo-plasmy | Hetero-Plasmy | Status | References | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
583 | MT-TF | MELAS / MM & EXIT | G583A | tRNA Phe | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 4 |
616 | MT-TF | Maternally inherited epilepsy / mito tubulointerstitial kidney disease (MITKD) | T616C | tRNA Phe | + | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 4 |
1494 | MT-RNR1 | DEAF | C1494T | 12S rRNA | + | - | Cfrm | N/A | 0.007% (0.000%) |
4 (0) | 31 |
1555 | MT-RNR1 | DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic | A1555G | 12S rRNA | + | + | Cfrm | N/A | 0.141% (0.000%) |
80 (0) | 149 |
1606 | MT-TV | AMDF | G1606A | tRNA Val | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 5 |
1630 | MT-TV | MNGIE-like disease / MELAS | A1630G | tRNA Val | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 4 |
3243 | MT-TL1 | MELAS / Leigh Syndrome / DMDF / MIDD / SNHL / CPEO / MM / FSGS / ASD / Cardiac+multi-organ dysfunction | A3243G | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.018% (0.000%) |
10 (0) | 440 |
3243 | MT-TL1 | MM / MELAS / SNHL / CPEO | A3243T | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 7 |
3256 | MT-TL1 | MELAS; possible atherosclerosis risk | C3256T | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 20 |
3258 | MT-TL1 | MELAS / Myopathy | T3258C | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 5 |
3260 | MT-TL1 | MMC / MELAS | A3260G | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 13 |
3271 | MT-TL1 | MELAS / DM | T3271C | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 28 |
3273 | MT-TL1 | PEM / retinal dystrophy in MELAS | T3273del | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 3 |
3280 | MT-TL1 | Myopathy | A3280G | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 6 |
3291 | MT-TL1 | MELAS / Myopathy / Deafness+Cognitive Impairment | T3291C | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 17 |
3302 | MT-TL1 | MM | A3302G | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 11 |
3303 | MT-TL1 | MMC | C3303T | tRNA Leu (UUR) | + | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 14 |
4298 | MT-TI | CPEO / MS | G4298A | tRNA Ile | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 10 |
4300 | MT-TI | MICM | A4300G | tRNA Ile | + | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 10 |
4308 | MT-TI | CPEO | G4308A | tRNA Ile | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 3 |
4332 | MT-TQ | Encephalopathy / MELAS | G4332A | tRNA Gln | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 4 |
4450 | MT-TM | Myopathy / MELAS / Leigh Syndrome | G4450A | tRNA Met | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 4 |
5521 | MT-TW | Mitochondrial myopathy | G5521A | tRNA Trp | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 6 |
5537 | MT-TW | Leigh Syndrome | A5537insT | tRNA Trp | - | + | Cfrm | - | 0.000% (0.000%) |
0 (0) | 6 |
5650 | MT-TA | Myopathy | G5650A | tRNA Ala | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 9 |
5690 | MT-TN | CPEO+ptosis+proximal myopathy | A5690G | tRNA Asn | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 2 |
5703 | MT-TN | CPEO / MM | G5703A | tRNA Asn | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 9 |
5728 | MT-TN | Multiorgan failure / myopathy | T5728C | tRNA Asn | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 4 |
7445 | MT-TS1 precursor | SNHL | A7445G | tRNA Ser (UCN) precursor | + | + | Cfrm | - | 0.002% (0.000%) |
1 (0) | 37 |
7471 | MT-TS1 | PEM / AMDF / Motor neuron disease-like | C7471CC | tRNA Ser (UCN) | + | + | Cfrm | - | 0.012% (0.000%) |
7 (0) | 32 |
7497 | MT-TS1 | MM / EXIT | G7497A | tRNA Ser (UCN) | + | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 8 |
7510 | MT-TS1 | SNHL | T7510C | tRNA Ser (UCN) | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 14 |
7511 | MT-TS1 | SNHL/Deafness | T7511C | tRNA Ser (UCN) | + | + | Cfrm | Pathogenic | 0.004% (0.000%) |
2 (0) | 24 |
8306 | MT-TK | Severe adult-onset multisymptom myopathy / Myoclonic epilepsy | T8306C | tRNA Lys | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 3 |
8313 | MT-TK | MNGIE / Progressive mito cytopathy | G8313A | tRNA Lys | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 7 |
8340 | MT-TK | Myopathy / Exercise Intolerance / Eye disease+SNHL | G8340A | tRNA Lys | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 8 |
8356 | MT-TK | MERRF | T8356C | tRNA Lys | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 12 |
8363 | MT-TK | MICM+DEAF / MERRF / Autism / Leigh Syndrome / Ataxia+Lipomas | G8363A | tRNA Lys | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 22 |
10010 | MT-TG | PEM | T10010C | tRNA Gly | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 11 |
12147 | MT-TH | MERRF-MELAS / Encephalopathy | G12147A | tRNA His | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 6 |
12201 | MT-TH | Maternally inherited non-syndromic deafness | T12201C | tRNA His | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 8 |
12258 | MT-TS2 | DMDF / RP+SNHL | C12258A | tRNA Ser (AGY) | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 9 |
12276 | MT-TL2 | CPEO | G12276A | tRNA Leu (CUN) | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 4 |
12294 | MT-TL2 | CPEO / EXIT+Ophthalmoplegia | G12294A | tRNA Leu (CUN) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 2 |
12315 | MT-TL2 | CPEO / KSS / possible carotid atherosclerosis risk, trend toward myocardial infarction risk | G12315A | tRNA Leu (CUN) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 15 |
12316 | MT-TL2 | CPEO | G12316A | tRNA Leu (CUN) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 2 |
14674 | MT-TE | Reversible COX deficiency myopathy | T14674C | tRNA Glu | + | - | Cfrm | Pathogenic | 0.018% (0.000%) |
10 (0) | 9 |
14709 | MT-TE | MM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegia | T14709C | tRNA Glu | + | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 28 |
14710 | MT-TE | Encephalomyopathy + Retinopathy | G14710A | tRNA Glu | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 6 |
15990 | MT-TP | MM / PEO | C15990T | tRNA Pro | - | + | Cfrm | Pathogenic | 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 |