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You are here: Foswiki>MITOMAP Web>ConfirmedMutationsArchived (29 Jun 2020, MarieLott)Edit Attach
Mitomap's Confirmed Pathogenic Mutations
For more details, including current frequencies and available sequences, see| Locus Type | Locus | Associated Diseases | Allele | Position | na Δ | aaΔ or RNA | Last Status Update |
| tRNA | MT-TF | MELAS / MM & EXIT | m.583 G>A | 583 | G-A | tRNA Phe | 2018.04.18 |
| tRNA | MT-TF | Maternally inherited epilepsy / kidney disease | m.616 T>C | 616 | T-C | tRNA Phe | 2019.01.19 |
| rRNA | MT-RNR1 | DEAF | m.1494 C>T | 1494 | C-T | 12S rRNA | 2018.04.18 |
| rRNA | MT-RNR1 | DEAF | m.1555 A>G | 1555 | A-G | 12S rRNA | 2018.04.18 |
| tRNA | MT-TV | AMDF | m.1606 G>A | 1606 | G-A | tRNA Val | 2018.04.18 |
| tRNA | MT-TV | MNGIE-like disease / MELAS | m.1630 A>G | 1630 | A-G | tRNA Val | 2018.04.18 |
| tRNA | MT-TV | LS / HCM / MELAS | m.1644 G>A | 1644 | G-A | tRNA Val | 2018.04.18 |
| tRNA | MT-TL1 | MELAS / LS / DMDF / MIDD / SNHL / CPEO / MM / FSGS / ASD / Cardiac+multi-organ dysfunction | m.3243 A>G | 3243 | A-G | tRNA Leu (UUR) | 2018.04.18 |
| tRNA | MT-TL1 | MM / MELAS / SNHL / CPEO | m.3243 A>T | 3243 | A-T | tRNA Leu (UUR) | 2018.04.18 |
| tRNA | MT-TL1 | MELAS | m.3256 C>T | 3256 | C-T | tRNA Leu (UUR) | 2018.04.18 |
| tRNA | MT-TL1 | MELAS / Myopathy | m.3258 T>C | 3258 | T-C | tRNA Leu (UUR) | 2018.04.18 |
| tRNA | MT-TL1 | MMC / MELAS | m.3260 A>G | 3260 | A-G | tRNA Leu (UUR) | 2018.04.18 |
| tRNA | MT-TL1 | PEM | m.3271 T>del | 3271 | T-del | tRNA Leu (UUR) | 2018.04.18 |
| tRNA | MT-TL1 | MELAS / DM | m.3271 T>C | 3271 | T-C | tRNA Leu (UUR) | 2018.04.18 |
| tRNA | MT-TL1 | Myopathy | m.3280 A>G | 3280 | A-G | tRNA Leu (UUR) | 2018.04.18 |
| tRNA | MT-TL1 | MELAS / Myopathy / Deafness+Cognitive Impairment | m.3291 T>C | 3291 | T-C | tRNA Leu (UUR) | 2018.04.18 |
| tRNA | MT-TL1 | MM | m.3302 A>G | 3302 | A-G | tRNA Leu (UUR) | 2018.04.18 |
| tRNA | MT-TL1 | MMC | m.3303 C>T | 3303 | C-T | tRNA Leu (UUR) | 2018.04.18 |
| Coding | MT-ND1 | LHON MELAS overlap | m.3376 G>A | 3376 | G-A | E-K | 2018.04.18 |
| Coding | MT-ND1 | LHON | m.3460 G>A | 3460 | G-A | A-T | 2018.04.18 |
| Coding | MT-ND1 | LHON | m.3635 G>A | 3635 | G-A | S-N | 2018.04.18 |
| Coding | MT-ND1 | MELAS / LS / LDYT | m.3697 G>A | 3697 | G-A | G-S | 2018.04.18 |
| Coding | MT-ND1 | LHON | m.3700 G>A | 3700 | G-A | A-T | 2018.04.18 |
| Coding | MT-ND1 | LHON | m.3733 G>A | 3733 | G-A | E-K | 2018.04.18 |
| Coding | MT-ND1 | Progressive Encephalomyopathy / LS / Optic Atrophy | m.3890 G>A | 3890 | G-A | R-Q | 2018.04.18 |
| Coding | MT-ND1 | EXIT+myalgia / severe LA+cardiac / 3-MGA aciduria | m.3902_3908 ACCTTGC>inversion | 3902 | inversion | DLA-GKV | 2018.04.18 |
| Coding | MT-ND1 | LHON | m.4171 C>A | 4171 | C-A | L-M | 2018.04.18 |
| tRNA | MT-TI | CPEO / MS | m.4298 G>A | 4298 | G-A | tRNA Ile | 2018.04.18 |
| tRNA | MT-TI | MICM | m.4300 A>G | 4300 | A-G | tRNA Ile | 2018.04.18 |
| tRNA | MT-TI | CPEO | m.4308 G>A | 4308 | G-A | tRNA Ile | 2018.04.18 |
| tRNA | MT-TQ | Encephalopathy / MELAS | m.4332 G>A | 4332 | G-A | tRNA Gln | 2018.04.18 |
| tRNA | MT-TM | Myopathy / MELAS | m.4450 G>A | 4450 | G-A | tRNA Met | 2019.03.06 |
| tRNA | MT-TW | Mitochondrial myopathy | m.5521 G>A | 5521 | G-A | tRNA Trp | 2018.04.18 |
| tRNA | MT-TW | Leigh Syndrome | m.5537 A>AT | 5537 | A-AT | tRNA Trp | 2018.04.18 |
| tRNA | MT-TA | Myopathy | m.5650 G>A | 5650 | G-A | tRNA Ala | 2018.04.18 |
| tRNA | MT-TN | CPEO+ptosis+proximal myopathy | m.5690 A>G | 5690 | A-G | tRNA Asn | 2018.04.18 |
| tRNA | MT-TN | CPEO / MM | m.5703 G>A | 5703 | G-A | tRNA Asn | 2018.04.18 |
| tRNA | MT-TN | Multiorgan failure / myopathy | m.5728 T>C | 5728 | T-C | tRNA Asn | 2019.08.23 |
| Coding | MT-CO1 | SNHL | m.7445 A>G | 7445 | A-G | Ter-Ter | 2018.04.18 |
| tRNA | MT-TS1 precursor | SNHL | m.7445 A>G | 7445 | A-G | tRNA Ser (UCN) precursor in CO1 | 2018.04.18 |
| tRNA | MT-TS1 | PEM / AMDF / Motor neuron disease-like | m.7471 C>CC | 7471 | C-CC | tRNA Ser (UCN) | 2018.04.18 |
| tRNA | MT-TS1 | MM / EXIT | m.7497 G>A | 7497 | G-A | tRNA Ser (UCN) | 2018.04.18 |
| tRNA | MT-TS1 | SNHL | m.7510 T>C | 7510 | T-C | tRNA Ser (UCN) | 2018.04.18 |
| tRNA | MT-TS1 | SNHL | m.7511 T>C | 7511 | T-C | tRNA Ser (UCN) | 2018.04.18 |
| tRNA | MT-TS1 | Myoclonic epilepsy / Adult-onset multisymptom myopathy | m.8306 T>C | 8306 | T-C | tRNA Ser (UCN) | 2020.02.04 |
| tRNA | MT-TS1 | MNGIE / Progressive mito cytopathy | m.8313 G>A | 8313 | G-A | tRNA Ser (UCN) | 2020.02.10 |
| tRNA | MT-TS1 | Myopathy / Exercise Intolerance / Eye disease+SNHL | m.8340 G>A | 8340 | G-A | tRNA Lys (UCN) | 2019.08.23 |
| tRNA | MT-TK | MERRF; Other - LD / Depressive mood disorder / leukoencephalopathy / HiCM | m.8344 A>G | 8344 | A-G | tRNA Lys | 2018.04.18 |
| tRNA | MT-TK | MERRF | m.8356 T>C | 8356 | T-C | tRNA Lys | 2018.04.18 |
| tRNA | MT-TK | MICM+DEAF / MERRF / Autism / LS / Ataxia+Lipomas | m.8363 G>A | 8363 | G-A | tRNA Lys | 2018.04.18 |
| Coding | MT-ATP8/6 | Infantile cardiomyopathy | m.8528 T>C | 8528 | T-C | ATP8:W-R; ATP6:M(start)-T | 2018.04.18 |
| Coding | MT-ATP6 | BSN / Leigh syndrome | m.8851 T>C | 8851 | T-C | W-R | 2018.04.18 |
| Coding | MT-ATP6 | NARP / Leigh Disease / MILS / other | m.8993 T>C | 8993 | T-C | L-P | 2018.04.18 |
| Coding | MT-ATP6 | NARP / Leigh Disease / MILS / other | m.8993 T>G | 8993 | T-G | L-R | 2018.04.18 |
| Coding | MT-ATP6 | Ataxia syndromes | m.9035 T>C | 9035 | T-C | L-P | 2018.04.18 |
| Coding | MT-ATP6 | FBSN / Leigh Disease | m.9176 T>C | 9176 | T-C | L-P | 2018.04.18 |
| Coding | MT-ATP6 | Leigh Disease / Spastic Paraplegia | m.9176 T>G | 9176 | T-G | L-R | 2018.04.18 |
| Coding | MT-ATP6 | Leigh Disease / Ataxia syndromes / NARP-like disease | m.9185 T>C | 9185 | T-C | L-P | 2018.04.18 |
| Coding | MT-ATP6 | Encephalopathy / Seizures / Lacticacidemia | m.9205 TA>del | 9205 | TA-del | Ter-M | 2018.04.18 |
| tRNA | MT-TG | PEM | m.10010 T>C | 10010 | T-C | tRNA Gly | 2018.04.18 |
| Coding | MT-ND3 | Leigh Disease / MELAS | m.10158 T>C | 10158 | T-C | S-P | 2018.04.18 |
| Coding | MT-ND3 | Leigh Disease / Leigh-like Disease / ESOC | m.10191 T>C | 10191 | T-C | S-P | 2018.04.18 |
| Coding | MT-ND3 | Leigh Disease / Dystonia / Stroke / LDYT | m.10197 G>A | 10197 | G-A | A-T | 2018.04.18 |
| Coding | MT-ND4L | LHON | m.10663 T>C | 10663 | T-C | V-A | 2018.04.18 |
| Coding | MT-ND4 | Leigh Disease | m.11777 C>A | 11777 | C-A | R-S | 2018.04.18 |
| Coding | MT-ND4 | LHON / Progressive Dystonia | m.11778 G>A | 11778 | G-A | R-H | 2018.04.18 |
| tRNA | MT-TH | MERRF-MELAS / Encephalopathy | m.12147 G>A | 12147 | G-A | tRNA His | 2018.04.18 |
| tRNA | MT-TS2 | DMDF / RP+SNHL | m.12258 C>A | 12258 | C-A | tRNA Ser (AGY) | 2018.04.18 |
| tRNA | MT-TL2 | CPEO | m.12276 G>A | 12276 | G-A | tRNA Leu (CUN) | 2018.04.18 |
| tRNA | MT-TL2 | CPEO / EXIT+Ophthalmoplegia | m.12294 G>A | 12294 | G-A | tRNA Leu (CUN) | 2018.10.12 |
| tRNA | MT-TL2 | CPEO / KSS | m.12315 G>A | 12315 | G-A | tRNA Leu (CUN) | 2018.04.18 |
| tRNA | MT-TL2 | CPEO | m.12316 G>A | 12316 | G-A | tRNA Leu (CUN) | 2018.04.18 |
| Coding | MT-ND5 | Leigh Disease | m.12706 T>C | 12706 | T-C | F-L | 2018.04.18 |
| Coding | MT-ND5 | Optic neuropathy/ retinopathy/ Leigh Disease | m.13042 G>A | 13042 | G-A | A-T | 2018.04.18 |
| Coding | MT-ND5 | LHON | m.13051 G>A | 13051 | G-A | G-S | 2018.04.18 |
| Coding | MT-ND5 | Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue | m.13094 T>C | 13094 | T-C | V-A | 2018.04.18 |
| Coding | MT-ND5 | LHON | m.13379 A>C | 13379 | A-C | H-P | 2020.04.10 |
| Coding | MT-ND5 | Leigh Disease / MELAS / LHON-MELAS Overlap Syndrome | m.13513 G>A | 13513 | G-A | D-N | 2018.04.18 |
| Coding | MT-ND5 | Leigh Disease / MELAS | m.13514 A>G | 13514 | A-G | D-G | 2018.04.18 |
| Coding | MT-ND6 | LDYT / Leigh Disease | m.14459 G>A | 14459 | G-A | A-V | 2018.04.18 |
| Coding | MT-ND6 | LHON | m.14482 C>A | 14482 | C-A | M-I | 2018.04.18 |
| Coding | MT-ND6 | LHON | m.14482 C>G | 14482 | C-G | M-I | 2018.04.18 |
| Coding | MT-ND6 | LHON | m.14484 T>C | 14484 | T-C | M-V | 2018.04.18 |
| Coding | MT-ND6 | Dystonia / Leigh Disease / Ataxia / Ptosis / Epilepsy | m.14487 T>C | 14487 | T-C | M-V | 2018.04.18 |
| Coding | MT-ND6 | LHON | m.14495 A>G | 14495 | A-G | L-S | 2018.04.18 |
| Coding | MT-ND6 | LHON | m.14568 C>T | 14568 | C-T | G-S | 2018.04.18 |
| tRNA | MT-TE | Reversible COX deficiency myopathy | m.14674 T>C | 14674 | T-C | tRNA Glu | 2018.04.18 |
| tRNA | MT-TE | MM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegia | m.14709 T>C | 14709 | T-C | tRNA Glu | 2018.04.18 |
| tRNA | MT-TE | Encephalomyopathy + Retinopathy | m.14710 G>A | 14710 | G-A | tRNA Glu | 2018.04.18 |
| Coding | MT-CYB | EXIT / Septo-Optic Dysplasia | m.14849 T>C | 14849 | T-C | S-P | 2018.04.18 |
| Coding | MT-CYB | Multisystem Disorder, EXIT | m.15579 A>G | 15579 | A-G | Y-C | 2018.04.18 |
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Topic revision: r1 - 29 Jun 2020, MarieLott
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