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/ LD 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 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 MELAS m.14864 T>C 14864 T-C C-R 2018.04.18
Coding MT-CYB Multisystem Disorder, EXIT m.15579 A>G 15579 A-G Y-C 2018.04.18
(Abbreviation key coming soon)

Topic revision: r1 - 19 Feb 2020, UnknownUser

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