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You are here: FoswikiMITOMAP WebConfirmedMutations (02 Apr 2021, UnknownUser)
Report date: 2021-04-02
Mitomap's Confirmed Pathogenic Mutations
For more details, including current frequencies and available sequences, see| Index | Locus Type | Locus | Associated Diseases | Allele | Position | aaΔ or RNA | Last Status Update |
| 1 | tRNA | MT-TF | MELAS / MM & EXIT | m.583G>A | 583 | tRNA Phe | 2018.04.18 |
| 2 | tRNA | MT-TF | Maternally inherited epilepsy / mito tubulointerstitial kidney disease (MITKD) | m.616T>C | 616 | tRNA Phe | 2019.01.19 |
| 3 | tRNA | MT-RNR1 | DEAF | m.1494C>T | 1494 | 12S rRNA | 2018.04.18 |
| 4 | tRNA | MT-RNR1 | DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic | m.1555A>G | 1555 | 12S rRNA | 2018.04.18 |
| 5 | tRNA | MT-TV | AMDF | m.1606G>A | 1606 | tRNA Val | 2018.04.18 |
| 6 | tRNA | MT-TV | MNGIE-like disease / MELAS | m.1630A>G | 1630 | tRNA Val | 2018.04.18 |
| 7 | tRNA | MT-TV | Leigh Syndrome / HCM / MELAS | m.1644G>A | 1644 | tRNA Val | 2018.04.18 |
| 8 | tRNA | MT-TL1 | MELAS / Leigh Syndrome / DMDF / MIDD / SNHL / CPEO / MM / FSGS / ASD / Cardiac+multi-organ dysfunction | m.3243A>G | 3243 | tRNA Leu (UUR) | 2018.04.18 |
| 9 | tRNA | MT-TL1 | MM / MELAS / SNHL / CPEO | m.3243A>T | 3243 | tRNA Leu (UUR) | 2018.04.18 |
| 10 | tRNA | MT-TL1 | MELAS; possible atherosclerosis risk | m.3256C>T | 3256 | tRNA Leu (UUR) | 2018.04.18 |
| 11 | tRNA | MT-TL1 | MELAS / Myopathy | m.3258T>C | 3258 | tRNA Leu (UUR) | 2018.04.18 |
| 12 | tRNA | MT-TL1 | MMC / MELAS | m.3260A>G | 3260 | tRNA Leu (UUR) | 2018.04.18 |
| 13 | tRNA | MT-TL1 | PEM / retinal dystrophy in MELAS | m.3271delT | 3271 | tRNA Leu (UUR) | 2018.04.18 |
| 14 | tRNA | MT-TL1 | MELAS / DM | m.3271T>C | 3271 | tRNA Leu (UUR) | 2018.04.18 |
| 15 | tRNA | MT-TL1 | Myopathy | m.3280A>G | 3280 | tRNA Leu (UUR) | 2018.04.18 |
| 16 | tRNA | MT-TL1 | MELAS / Myopathy / Deafness+Cognitive Impairment | m.3291T>C | 3291 | tRNA Leu (UUR) | 2018.04.18 |
| 17 | tRNA | MT-TL1 | MM | m.3302A>G | 3302 | tRNA Leu (UUR) | 2018.04.18 |
| 18 | tRNA | MT-TL1 | MMC | m.3303C>T | 3303 | tRNA Leu (UUR) | 2018.04.18 |
| 19 | Coding | MT-ND1 | LHON MELAS overlap | m.3376G>A | 3376 | E24K | 2018.04.18 |
| 20 | Coding | MT-ND1 | LHON | m.3460G>A | 3460 | A52T | 2018.04.18 |
| 21 | Coding | MT-ND1 | LHON | m.3635G>A | 3635 | S110N | 2018.04.18 |
| 22 | Coding | MT-ND1 | MELAS / Leigh Syndrome / LDYT / BSN | m.3697G>A | 3697 | G131S | 2018.04.18 |
| 23 | Coding | MT-ND1 | LHON | m.3700G>A | 3700 | A132T | 2018.04.18 |
| 24 | Coding | MT-ND1 | LHON | m.3733G>A | 3733 | E143K | 2018.04.18 |
| 25 | Coding | MT-ND1 | Progressive Encephalomyopathy / Leigh Syndrome / Optic Atrophy | m.3890G>A | 3890 | R195Q | 2018.04.18 |
| 26 | Coding | MT-ND1 | EXIT+myalgia / severe LA+cardiac / 3-MGA aciduria | m.3902_3908 ACCTTGCinv | 3902 | DLA-GKV | 2018.04.18 |
| 27 | Coding | MT-ND1 | LHON / Leigh-like phenotype | m.4171C>A | 4171 | L289M | 2018.04.18 |
| 28 | tRNA | MT-TI | CPEO / MS | m.4298G>A | 4298 | tRNA Ile | 2018.04.18 |
| 29 | tRNA | MT-TI | MICM | m.4300A>G | 4300 | tRNA Ile | 2018.04.18 |
| 30 | tRNA | MT-TI | CPEO | m.4308G>A | 4308 | tRNA Ile | 2018.04.18 |
| 31 | tRNA | MT-TQ | Encephalopathy / MELAS | m.4332G>A | 4332 | tRNA Gln | 2018.04.18 |
| 32 | tRNA | MT-TM | Myopathy / MELAS / Leigh Syndrome | m.4450G>A | 4450 | tRNA Met | 2019.03.06 |
| 33 | tRNA | MT-TW | Mitochondrial myopathy | m.5521G>A | 5521 | tRNA Trp | 2018.04.18 |
| 34 | tRNA | MT-TW | Leigh Syndrome | m.5537_5538insT | 5537 | tRNA Trp | 2018.04.18 |
| 35 | tRNA | MT-TA | Myopathy | m.5650G>A | 5650 | tRNA Ala | 2018.04.18 |
| 36 | tRNA | MT-TN | CPEO+ptosis+proximal myopathy | m.5690A>G | 5690 | tRNA Asn | 2018.04.18 |
| 37 | tRNA | MT-TN | CPEO / MM | m.5703G>A | 5703 | tRNA Asn | 2018.04.18 |
| 38 | tRNA | MT-TN | Multiorgan failure / myopathy | m.5728T>C | 5728 | tRNA Asn | 2019.08.23 |
| 39 | Coding | MT-CO1 | SNHL | m.7445A>G | 7445 | term514term | 2018.04.18 |
| 40 | tRNA | MT-TS1 precursor | SNHL | m.7445A>G | 7445 | tRNA Ser (UCN) precursor | 2018.04.18 |
| 41 | tRNA | MT-TS1 | PEM / AMDF / Motor neuron disease-like | m.7471_7472insC | 7471 | tRNA Ser (UCN) | 2018.04.18 |
| 42 | tRNA | MT-TS1 | MM / EXIT | m.7497G>A | 7497 | tRNA Ser (UCN) | 2018.04.18 |
| 43 | tRNA | MT-TS1 | SNHL | m.7510T>C | 7510 | tRNA Ser (UCN) | 2018.04.18 |
| 44 | tRNA | MT-TS1 | SNHL/Deafness | m.7511T>C | 7511 | tRNA Ser (UCN) | 2018.04.18 |
| 45 | tRNA | MT-TK | Severe adult-onset multisymptom myopathy / Myoclonic epilepsy | m.8306T>C | 8306 | tRNA Lys | 2020.02.04 |
| 46 | tRNA | MT-TK | MNGIE / Progressive mito cytopathy | m.8313G>A | 8313 | tRNA Lys | 2020.02.10 |
| 47 | tRNA | MT-TK | Myopathy / Exercise Intolerance / Eye disease+SNHL | m.8340G>A | 8340 | tRNA Lys | 2019.08.23 |
| 48 | tRNA | MT-TK | MERRF; Other - LD / Depressive mood disorder / leukoencephalopathy / HiCM | m.8344A>G | 8344 | tRNA Lys | 2018.04.18 |
| 49 | tRNA | MT-TK | MERRF | m.8356T>C | 8356 | tRNA Lys | 2018.04.18 |
| 50 | tRNA | MT-TK | MICM+DEAF / MERRF / Autism / Leigh Syndrome / Ataxia+Lipomas | m.8363G>A | 8363 | tRNA Lys | 2018.04.18 |
| 51 | Coding | MT-ATP8/6 | Infantile cardiomyopathy | m.8528T>C | 8528 | ATP8:W55R ATP6:M1T | 2018.04.18 |
| 52 | Coding | MT-ATP6 | BSN / Leigh syndrome | m.8851T>C | 8851 | W109R | 2018.04.18 |
| 53 | Coding | MT-ATP6 | Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathy | m.8969G>A | 8969 | S148N | 2018.04.18 |
| 54 | Coding | MT-ATP6 | NARP / Leigh Disease / MILS / other | m.8993T>C | 8993 | L156P | 2018.04.18 |
| 55 | Coding | MT-ATP6 | NARP / Leigh Disease / MILS / other | m.8993T>G | 8993 | L156R | 2018.04.18 |
| 56 | Coding | MT-ATP6 | Ataxia syndromes | m.9035T>C | 9035 | L170P | 2018.04.18 |
| 57 | Coding | MT-ATP6 | MIDD, renal insufficiency | m.9155A>G | 9155 | Q210R | 2019.12.09 |
| 58 | Coding | MT-ATP6 | FBSN / Leigh Disease | m.9176T>C | 9176 | L217P | 2018.04.18 |
| 59 | Coding | MT-ATP6 | Leigh Disease / Spastic Paraplegia | m.9176T>G | 9176 | L217R | 2018.04.18 |
| 60 | Coding | MT-ATP6 | Leigh Disease / Ataxia syndromes / NARP-like disease | m.9185T>C | 9185 | L220P | 2018.04.18 |
| 61 | Coding | MT-ATP6 | Encephalopathy / Seizures / Lacticacidemia | m.9205_9206delTA | 9205 | Ter-M | 2018.04.18 |
| 62 | tRNA | MT-TG | PEM | m.10010T>C | 10010 | tRNA Gly | 2018.04.18 |
| 63 | Coding | MT-ND3 | Leigh Disease / MELAS | m.10158T>C | 10158 | S34P | 2018.04.18 |
| 64 | Coding | MT-ND3 | Leigh Disease / Leigh-like Disease / ESOC | m.10191T>C | 10191 | S45P | 2018.04.18 |
| 65 | Coding | MT-ND3 | Leigh Disease / Dystonia / Stroke / LDYT | m.10197G>A | 10197 | A47T | 2018.04.18 |
| 66 | Coding | MT-ND4L | LHON | m.10663T>C | 10663 | V65A | 2018.04.18 |
| 67 | Coding | MT-ND4 | Leigh Disease | m.11777C>A | 11777 | R340S | 2018.04.18 |
| 68 | Coding | MT-ND4 | LHON / Progressive Dystonia | m.11778G>A | 11778 | R340H | 2018.04.18 |
| 69 | tRNA | MT-TH | MERRF-MELAS / Encephalopathy | m.12147G>A | 12147 | tRNA His | 2018.04.18 |
| 70 | tRNA | MT-TH | Maternally inherited non-syndromic deafness | m.12201T>C | 12201 | tRNA His | 2020.09.17 |
| 71 | tRNA | MT-TS2 | DMDF / RP+SNHL | m.12258C>A | 12258 | tRNA Ser (AGY) | 2018.04.18 |
| 72 | tRNA | MT-TL2 | CPEO | m.12276G>A | 12276 | tRNA Leu (CUN) | 2018.04.18 |
| 73 | tRNA | MT-TL2 | CPEO / EXIT+Ophthalmoplegia | m.12294G>A | 12294 | tRNA Leu (CUN) | 2018.10.12 |
| 74 | tRNA | MT-TL2 | CPEO / KSS / possible carotid atherosclerosis risk, trend toward myocardial infarction risk | m.12315G>A | 12315 | tRNA Leu (CUN) | 2018.04.18 |
| 75 | tRNA | MT-TL2 | CPEO | m.12316G>A | 12316 | tRNA Leu (CUN) | 2018.04.18 |
| 76 | Coding | MT-ND5 | Leigh Disease | m.12706T>C | 12706 | F124L | 2018.04.18 |
| 77 | Coding | MT-ND5 | Optic neuropathy/ retinopathy/ LD | m.13042G>A | 13042 | A236T | 2018.04.18 |
| 78 | Coding | MT-ND5 | LHON | m.13051G>A | 13051 | G239S | 2018.04.18 |
| 79 | Coding | MT-ND5 | Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue | m.13094T>C | 13094 | V253A | 2018.04.18 |
| 80 | Coding | MT-ND5 | LHON | m.13379A>C | 13379 | H348P | 2020.04.10 |
| 81 | Coding | MT-ND5 | Leigh Disease / MELAS / LHON-MELAS Overlap Syndrome / negative association w Carotid Atherosclerosis | m.13513G>A | 13513 | D393N | 2018.04.18 |
| 82 | Coding | MT-ND5 | Leigh Disease / MELAS / Ca2+ downregulation | m.13514A>G | 13514 | D393G | 2018.04.18 |
| 83 | Coding | MT-ND6 | LDYT / Leigh Disease / dystonia / carotid atherosclerosis risk | m.14459G>A | 14459 | A72V | 2018.04.18 |
| 84 | Coding | MT-ND6 | LHON | m.14482C>A | 14482 | M64I | 2018.04.18 |
| 85 | Coding | MT-ND6 | LHON | m.14482C>G | 14482 | M64I | 2018.04.18 |
| 86 | Coding | MT-ND6 | LHON | m.14484T>C | 14484 | M64V | 2018.04.18 |
| 87 | Coding | MT-ND6 | Dystonia / Leigh Disease / ataxia / ptosis / epilepsy | m.14487T>C | 14487 | M63V | 2018.04.18 |
| 88 | Coding | MT-ND6 | LHON | m.14495A>G | 14495 | L60S | 2018.04.18 |
| 89 | Coding | MT-ND6 | LHON | m.14568C>T | 14568 | G36S | 2018.04.18 |
| 90 | tRNA | MT-TE | Reversible COX deficiency myopathy | m.14674T>C | 14674 | tRNA Glu | 2018.04.18 |
| 91 | tRNA | MT-TE | MM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegia | m.14709T>C | 14709 | tRNA Glu | 2018.04.18 |
| 92 | tRNA | MT-TE | Encephalomyopathy + Retinopathy | m.14710G>A | 14710 | tRNA Glu | 2018.04.18 |
| 93 | Coding | MT-CYB | EXIT / Septo-Optic Dysplasia | m.14849T>C | 14849 | S35P | 2018.04.18 |
| 94 | Coding | MT-CYB | Multisystem Disorder, EXIT | m.15579A>G | 15579 | Y278C | 2018.04.18 |
| 95 | tRNA | MT-TP | MM / PEO | m.15990C>T | 15990 | tRNA Pro | 2020.10.23 |
The data are derived from 51836 GenBank sequences with size greater than 15.4kbp and 74866 Control Region sequences with size 0.4-1.6k bp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known to date. We will be updating and refining this set of sequences on a regular basis. As a caveat, please note that GenBank sequences may not be of equal quality (Yao, et al, 2009), that some of these sequences are from individuals with past, current or future disease, and that this portion of our data set has not been hand-curated by Mitomap.
For more details about the current GenBank sequence set, please see https://www.mitomap.org/MITOMAP/GBFreqInfo
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Topic revision: r1 - 02 Apr 2021, UnknownUser
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