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MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: Coding and Control Region Point Mutations

Last Edited: Mar 25, 2019

The GB frequency data in Mitomap is derived from 47412 GenBank sequences with size greater than 15.4kbp and 71091 Control Region sequences with size 0.4-1.6kbp. 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 http://www.mitomap.org/MITOMAP/GBFreqInfo

Locus Disease Allele Nucleotide
Position 		Nucleotide
Change 		Amino Acid Change Homo-plasmy Hetero-plasmy Status References
114 MT-CR BD-associated C114T C-T noncoding + - Reported 210 1
146 MT-CR Absence of Endometriosis T146C T-C noncoding + - Reported 9222 1
150 MT-CR Longevity / Cervical Carcinoma / HPV infection risk C150T C-T noncoding + + Conflicting reports 6348 8
195 MT-CR BD-associated / melanoma pts T195C T-C noncoding + - Reported 9294 3
302 MT-CR Higher in melanoma patient group A302ACC A-ACC noncoding . . Reported 162 1
309 MT-CR AD-weakly associated C309CC C-CC noncoding . . Reported 507 1
310 MT-CR Melanoma patients T310TC T-TC noncoding . . Reported 0 1
499 MT-CR Endometriosis G499A G-A noncoding + - Reported 1703 1
547 MT-CR Tubulointerstitial kidney disease A547T A-T noncoding + - Reported 0 1
573 MT-CR Absence of Endometriosis C573CCC C-CCC noncoding + - Reported 0 1
3308 MT-ND1 MELAS / DEAF enhancer / hypertension / LVNC / putative LHON T3308C T-C M-T - + P.M.-possibly synergistic 346 14
3308 MT-ND1 Sudden Infant Death T3308G T-G M-Term + + Reported 6 1
3310 MT-ND1 Diabetes / HCM C3310T C-T P-S + + Reported 12 3
3316 MT-ND1 Diabetes / LHON / PEO G3316A G-A A-T + - Unclear 479 18
3335 MT-ND1 LHON T3335C T-C I-T + - Reported 52 1
3336 MT-ND1 Carotid atherosclerosis risk T3336C T-C I-I - + Reported 186 3
3337 MT-ND1 Cardiomyopathy G3337A G-A V-M + - Possibly synergistic 75 1
3340 MT-ND1 Encephaloneuromyopathy C3340T C-T P-S + - Reported 3 1
3376 MT-ND1 LHON MELAS overlap G3376A G-A E-K + + Cfrm 0 3
3380 MT-ND1 MELAS G3380A G-A R-Q - + Reported 3 1
3388 MT-ND1 Materally Inherited Nonsyndromic Deafness C3388A C-A L-M . . Reported 16 1
3391 MT-ND1 LHON G3391A G-A G-S + - Reported 49 1
3394 MT-ND1 LHON / Diabetes / CPTdeficiency / high altitude adaptation T3394C T-C Y-H + - Reported / Population-dependent 616 28
3395 MT-ND1 LHON / HCM with hearing loss A3395G A-G Y-C + + Reported 22 3
3396 MT-ND1 NSHL / MIDD T3396C T-C Y-Y + - Reported / Unclear 388 2
3397 MT-ND1 ADPD / Possibly LVNC-cardiomyopathy associated A3397G A-G M-V + - Reported 136 10
3398 MT-ND1 DMDF+HCM / GDM / possibly LVNC cardiomyopathy-associated T3398C T-C M-T + - Reported 187 5
3399 MT-ND1 Gestational Diabetes (GDM) A3399T A-T M-I + - Reported 18 1
3407 MT-ND1 HCM / Muscle involvement G3407A G-A R-H + - Conflicting reports 1 3
3418 MT-ND1 AMegL A3418G A-G N-D + - Reported 1 1
3421 MT-ND1 MIDD G3421A G-A V-I + - Reported 69 1
3460 MT-ND1 LHON G3460A G-A A-T + + Cfrm 20 148
3472 MT-ND1 LHON T3472C T-C F-L + + Reported 5 6
3481 MT-ND1 MELAS G3481A G-A E-K - + Reported 0 2
3481 MT-ND1 Progressive Encephalomyopathy G3481A G-A E-K - + Reported 0 1
3488 MT-ND1 LHON T3488C T-C L-P + - Reported 1 1
3496 MT-ND1 LHON G3496T G-T A-S + - Reported / Secondary 11 2
3497 MT-ND1 LHON C3497T C-T A-V + - Reported / Secondary 154 4
3551 MT-ND1 LHON C3551T C-T A-V + - Reported 0 1
3632 MT-ND1 LHON C3632T C-T S-F + - Reported 0 1
3634 MT-ND1 LHON A3634G A-G S-G + - Reported 0 1
3635 MT-ND1 LHON G3635A G-A S-N + - Cfrm 9 9
3644 MT-ND1 BD-associated T3644C T-C V-A . . Reported 199 3
3688 MT-ND1 Leigh Syndrome G3688A G-A A-T + - Reported 0 2
3697 MT-ND1 MELAS / LS / LDYT G3697A G-A G-S + + Cfrm 0 11
3700 MT-ND1 LHON G3700A G-A A-T + - Cfrm 3 2
3713 MT-ND1 LHON T3713C T-C V-A + - Reported 0 1
3733 MT-ND1 LHON G3733A G-A E-K + + Cfrm 2 6
3733 MT-ND1 LHON G3733C G-C E-Q - + Reported 0 1
3736 MT-ND1 LHON G3736A G-A V-I . . Reported 79 1
3745 MT-ND1 LHON / high altitude variant G3745A G-A A-T . . Reported / Population-dependent 100 2
3769 MT-ND1 LHON C3769G C-G L-V + - Reported 0 1
3781 MT-ND1 LHON T3781C T-C S-P + - Reported 0 1
3796 MT-ND1 Adult-Onset Dystonia A3796G A-G T-A - + Reported 226 3
3833 MT-ND1 PEG T3833A T-A L-Q + - Reported 0 1
3866 MT-ND1 LHON +limb claudication T3866C T-C I-T . . Reported 136 3
3890 MT-ND1 Progressive Encephalomyopathy / LS / Optic Atrophy G3890A G-A R-Q - + Cfrm 1 5
3902 MT-ND1 EXIT+myalgia / severe LA+cardiac / 3-MGA aciduria 3902_3908invACCTTGC inversion DLA-GKV - + Cfrm 0 3
3919 MT-ND1 LHON T3919C T-C S-P + - Reported 0 1
3946 MT-ND1 MELAS G3946A G-A E-K + + Reported 2 6
3949 MT-ND1 MELAS T3949C T-C Y-H - + Reported 1 6
3958 MT-ND1 LHON G3958A G-A G-S + - Reported 0 1
3959 MT-ND1 MELAS G3959A G-A G-D . . Reported 0 1
3995 MT-ND1 MELAS A3995G A-G N-S . . Reported 18 1
4081 MT-ND1 LHON T4081C T-C F-L + - Reported 0 1
4123 MT-ND1 LHON A4123T A-T I-F + - Reported 0 1
4132 MT-ND1 NAION-associated G4132A G-A A-T + - Reported 7 1
4136 MT-ND1 LHON A4136G A-G Y-C + - Possibly synergistic 59 10
4142 MT-ND1 Developmental delay, seizure, hypotonia G4142A G-A R-Q - + Reported 0 1
4160 MT-ND1 LHON T4160C T-C L-P + - Reported 1 10
4163 MT-ND1 LHON T4163C T-C M-T + - Reported 0 1
4171 MT-ND1 LHON C4171A C-A L-M + + Cfrm 2 7
4216 MT-ND1 LHON / Insulin Resistance /possible adaptive high altitude variant T4216C T-C Y-H + - Reported / Population-dependent 4698 38
4633 MT-ND2 LHON candidate C4633G C-G A-G + - Reported 0 1
4640 MT-ND2 LHON C4640A C-A I-M + - Reported 136 4
4648 MT-ND2 PEG T4648C T-C F-S + - Reported 1 1
4659 MT-ND2 possible PD risk factor G4659A G-A A-T + - Reported 63 1
4681 MT-ND2 Leigh Syndrome T4681C T-C L-P - + Reported 1 2
4769 MT-ND2 SZ-associated A4769A A-A M-M + - Reported 0 2
4833 MT-ND2 Diabetes helper mutation AD, PD A4833G A-G T-A + - Reported; hg G marker 441 2
4852 MT-ND2 LHON T4852A T-A L-Q + - Reported 0 1
4883 MT-ND2 Glaucoma C4883T C-T P-P + - Conflicting reports 2291 2
4917 MT-ND2 LHON / Insulin Resistance / AMD / NRTI-PN A4917G A-G N-D + - Reported; hg T marker 2262 27
5001 MT-ND2 Developmental delay, seizure, cardiomyopathy, lactic acidosis A5001AA A-AA frameshift - + Reported 0 2
5095 MT-ND2 Proximal muscle weakness and atrophy T5095C T-C I-T . . Reported 19 1
5134 MT-ND2 Exercise intolerance (EXIT) AA5134d AAA-A frameshift . . Reported 0 5
5178 MT-ND2 Longevity / Extraversion / diabetes / AMS protection / blood iron metabolism / correlation with myocardial infarction / atherosclerosis C5178A C-A L-M + - Reported; hg D marker 2268 21
5244 MT-ND2 LHON G5244A G-A G-S - + Reported 0 7
5452 MT-ND2 Progressive Encephalomyopathy C5452T C-T T-M + - Reported 14 1
5460 MT-ND2 AD / PD G5460A G-A A-T + + Conflicting reports 3088 8
5460 MT-ND2 AD G5460T G-T A-S + + Reported 0 5
5911 MT-CO1 Prostate Cancer C5911T C-T A-V + - Reported 239 1
5913 MT-CO1 Prostate Cancer / hypertension G5913A G-A D-N + - Reported 459 3
5920 MT-CO1 Myoglobinuria / EXIT G5920A G-A W-Ter - + Reported 0 4
5935 MT-CO1 Prostate Cancer A5935G A-G N-S + - Reported 1 1
5973 MT-CO1 Prostate Cancer G5973A G-A A-T + - Reported 9 1
6020 MT-CO1 Motor Neuron Disease CGAGC6020d CGAGC-del AELGQ-AGPATer - + Reported 0 1
6081 MT-CO1 Prostate Cancer G6081A G-A A-T + - Reported 1 1
6150 MT-CO1 Prostate Cancer / enriched in POAG cohort G6150A G-A V-I + - Reported 230 2
6253 MT-CO1 Prostate Cancer / enriched in POAG cohort T6253C T-C M-T + - Reported 501 3
6261 MT-CO1 Prostate Cancer / LHON G6261A G-A A-T + - Reported 330 3
6267 MT-CO1 Prostate Cancer G6267A G-A A-T + - Reported 74 1
6285 MT-CO1 Prostate Cancer G6285A G-A V-I + - Reported 117 1
6328 MT-CO1 EXIT (Exercise Intolerance) C6328T C-T S-F + - Reported 0 2
6340 MT-CO1 Prostate Cancer C6340T C-T T-I + - Reported 78 2
6480 MT-CO1 Prostate Cancer / enriched in POAG cohort G6480A G-A V-I + - Reported 145 4
6489 MT-CO1 Therapy-Resistant Epilepsy C6489A C-A L-I - + Reported 78 2
6597 MT-CO1 MELAS-like syndrome C6597A C-A Q-K - + Reported 0 1
6663 MT-CO1 Prostate Cancer A6663G A-G I-V + - Reported 150 3
6698 MT-CO1 Myopathy A6698del A-del K-K_frameshift - + Reported 0 1
6708 MT-CO1 MM & Rhabdomyolysis G6708A G-A G-Ter - + Reported 0 1
6721 MT-CO1 Acquired Idiopathic Sideroblastic Anemia T6721C T-C M-T - + Reported 0 2
6742 MT-CO1 Acquired Idiopathic Sideroblastic Anemia T6742C T-C I-T - + Reported 0 2
6930 MT-CO1 Multisystem Disorder G6930A G-A G-Ter - + Reported 0 3
6955 MT-CO1 Mild EXIT and MR G6955A G-A G-D + + Reported 1 1
6962 MT-CO1 Possible helper variant for 15927A G6962A G-A L-L + - Reported 1112 1
7023 MT-CO1 MELAS-like syndrome G7023A G-A V-M - + Reported 1 1
7041 MT-CO1 Prostate Cancer G7041A G-A V-I + - Reported 6 1
7080 MT-CO1 Prostate Cancer T7080C T-C F-L + - Reported 46 1
7083 MT-CO1 Prostate Cancer A7083G A-G I-V + - Reported 15 1
7158 MT-CO1 Prostate Cancer A7158G A-G I-V + - Reported 32 1
7305 MT-CO1 Prostate Cancer A7305C A-C M-L + - Reported 0 1
7402 MT-CO1 Isolated complex IV deficiency C7402del C-del frameshift - + Reported 0 1
7443 MT-CO1 DEAF A7443G A-G Ter-G + - Reported 1 4
7444 MT-CO1 LHON / SNHL / DEAF G7444A G-A Ter-K + - Reported 168 24
7445 MT-CO1 DEAF A7445C A-C Ter-S + - Reported 13 5
7445 MT-CO1 SNHL A7445G A-G Ter-Ter + + Cfrm 1 31
7587 MT-CO2 Mitochondrial Encephalomyopathy T7587C T-C M-T - + Reported 0 2
7598 MT-CO2 Possible LHON helper variant G7598A G-A A-T - + Reported 595 2
7623 MT-CO2 LHON C7623T C-T T-I + - Reported 0 1
7637 MT-CO2 PD risk factor G7637A G-A E-K - + Reported 2 1
7671 MT-CO2 MM T7671A T-A M-K - + Reported 0 2
7697 MT-CO2 Possible HCM susceptibility G7697A G-A V-I + - Reported 243 3
7706 MT-CO2 Alpers-Huttenlocher-like G7706A G-A A-T + Reported 9 1
7859 MT-CO2 Progressive Encephalomyopathy G7859A G-A D-N + - Reported 141 1
7868 MT-CO2 LHON C7868T C-T L-F + - Possibly synergistic 16 1
7877 MT-CO2 PEG glaucoma A7877C A-C K-Q + - Reported 0 1
7896 MT-CO2 Multisystem Disorder G7896A G-A W-Ter - + Reported 0 1
7970 MT-CO2 Encephalopathy G7970T G-T E-Ter - + Reported 0 1
7989 MT-CO2 Rhabdomyolysis T7989C T-C L-P - + Reported 0 2
8010 MT-CO2 Developmental delay, ataxia, seizure, hypotonia, lactic acidosis T8010C T-C V-A - + Reported 2 1
8021 MT-CO2 Asthenozoospermia A8021G A-G I-V + - Reported 4 1
8042 MT-CO2 Lactic Acidosis 8042delAT AT-del frameshift - + Reported 0 1
8078 MT-CO2 DEAF G8078A G-A V-I + - Reported 27 2
8108 MT-CO2 SNHL A8108G A-G I-V + - Reported 68 1
8119 MT-CO2 Biliary atresia T8119del T-del frameshift - + Reported 0 1
8156 MT-CO2 Multi-system mitochondrial disorder G8156del G-del frameshift - + Reported 0 1
8241 MT-CO2 MIDD+retinopathy T8241G T-G F-C - + Conflicting reports 0 2
8249 MT-CO2 Mitochondrial myopathy G8249A G-A G-Ter + - Reported 0 2
8381 MT-ATP8 MIDD / LVNC cardiomyopathy-assoc. A8381G A-G T-A + - Reported 11 2
8393 MT-ATP8 Reversible brain pseudoatrophy C8393T C-T P-S - + Reported 169 2
8403 MT-ATP8 Episodic weakness and progressive neuropathy T8403C T-C I-T + - Reported 1 1
8411 MT-ATP8 Severe mitochondrial disorder A8411G A-G M-V + - Reported 2 1
8414 MT-ATP8 Longevity C8414T C-T L-F + - Reported 1887 1
8481 MT-ATP8 Tetralogy of Fallot patient C8481T C-T P-L + - Reported 3 1
8519 MT-ATP8 Susceptibility to bullous pemphigoid G8519A G-A E-K + - Reported 115 1
8527 MT-ATP8/6 Neuromuscular disorder, possible helper mutation A8527G A-G ATP8:K-K ATP6:M-V + - Reported 210 1
8528 MT-ATP8/6 Infantile cardiomyopathy T8528C T-C ATP8:W-R ATP6:M-T + + Cfrm 0 3
8529 MT-ATP8/6 Apical HCM G8529A G-A ATP8:W-Term ATP6:M-M + - Reported 0 1
8558 MT-ATP8/6 Possibly LVNC cardiomyopathy-associated C8558T C-T ATP8:P-S ATP6:A-V + - Reported 12 1
8561 MT-ATP8/6 Ataxia w neuropathy, DM, SNHL, and hypogonadism C8561G C-G ATP8:P-A ATP6:P-R + + Reported 0 1
8611 MT-ATP6 Ataxia, microcephaly, developmental delay, intellectual disability C8611CC C-CC frameshift - + Reported 0 1
8618 MT-ATP6 NARP T8618TT T-TT frameshift - + Reported 0 1
8668 MT-ATP6 LHON T8668C T-C W-R + - Reported 34 1
8719 MT-ATP6 Suspected mito disease G8719A G-A G-Ter - + Reported 0 1
8741 MT-ATP6 MILS protective factor T8741G T-G L-R - + Reported 0 1
8794 MT-ATP6 Exercise Endurance / Coronary Atherosclerosis risk C8794T C-T H-Y + - Reported 1344 2
8795 MT-ATP6 MILS protective factor A8795G A-G H-R - + Reported 0 1
8821 MT-ATP6 Possible LHON helper variant T8821G T-G S-A . . Reported 0 1
8836 MT-ATP6 LHON A8836G A-G M-V + - Reported 136 2
8851 MT-ATP6 BSN / Leigh syndrome T8851C T-C W-R + + Cfrm 3 5
8890 MT-ATP6 Juvenile-onset metabolic syndrome A8890G A-G K-E - + Reported 0 1
8932 MT-ATP6 Prostate Cancer / Neuromuscular disorder C8932T C-T P-S + - Reported 210 3
8950 MT-ATP6 LDYT G8950A G-A V-I + - Reported 63 2
8969 MT-ATP6 Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathy G8969A G-A S-N - + Cfrm 0 3
8993 MT-ATP6 NARP / Leigh Disease / MILS / other T8993C T-C L-P - + Cfrm 2 31
8993 MT-ATP6 NARP / Leigh Disease / MILS / other T8993G T-G L-R - + Cfrm 6 97
9016 MT-ATP6 LHON A9016G A-G I-V - + Reported 12 2
9025 MT-ATP6 Motor neuropathy, LS-like, colon cancer G9025A G-A G-S + - Reported 29 1
9029 MT-ATP6 LHON-like A9029G A-G H-R + + Reported 1 1
9032 MT-ATP6 NARP T9032C T-C L-P - + Reported 0 1
9035 MT-ATP6 Ataxia syndromes T9035C T-C L-P + + Cfrm 0 2
9055 MT-ATP6 PD protective factor G9055A G-A A-T + - Reported 2014 2
9058 MT-ATP6 Possibly LVNC cardiomyopathy-associated A9058G A-G T-A + - Reported 26 1
9071 MT-ATP6 Potentially functional variant cosegregating with LHON3635A C9071T C-T S-L + - Reported 13 1
9098 MT-ATP6 Predisposition to anti-retroviral mito disease T9098C T-C I-T + - Reported 52 1
9101 MT-ATP6 LHON T9101C T-C I-T + - Reported 37 4
9127 MT-ATP6 NARP 9127_9128delAT AT-del IL-PTer - + Reported 0 1
9134 MT-ATP6 Hypotonia, lactic acidosis, HCM, IUGR A9134G A-G E-G nr nr Reported 0 1
9139 MT-ATP6 LHON G9139A G-A A-T + - Reported - possibly synergistic 37 1
9176 MT-ATP6 FBSN / Leigh Disease T9176C T-C L-P + + Cfrm 3 19
9176 MT-ATP6 Leigh Disease / Spastic Paraplegia T9176G T-G L-R - + Cfrm 1 4
9185 MT-ATP6 Leigh Disease / Ataxia syndromes / NARP-like disease T9185C T-C L-P + + Cfrm 3 13
9191 MT-ATP6 Leigh Disease T9191C T-C L-P - + Reported 0 1
9205 MT-ATP6 Encephalopathy / Seizures / Lacticacidemia 9205_9206delTA TA-del Ter-M + - Cfrm 0 7
9267 MT-CO3 MIDD G9267C G-C A-P - + Reported 0 1
9379 MT-CO3 MM w lactic acidosis G9379A G-A W-Ter - + Reported 0 1
9387 MT-CO3 Asthenozoospermia G9387A G-A V-M - + Reported 0 1
9438 MT-CO3 LHON G9438A G-A G-S + - Conflicting reports 531 13
9478 MT-CO3 Leigh Disease T9478C T-C V-A - + Reported 17 1
9480 MT-CO3 Myoglobinuria 9480del15 TTTTTCTTCGCAGGA-del FFFAG-del - + Reported 0 5
9537 MT-CO3 Leigh Disease C9537insC C-CC frameshift + - Reported 0 2
9544 MT-CO3 Sporadic bilateral optic neuropathy G9544A G-A G-E . . Reported 0 1
9559 MT-CO3 Rhabdomyolysis C9559del C-del frameshift - + Reported 0 1
9660 MT-CO3 LHON A9660C A-C M-L + - Reported 0 1
9738 MT-CO3 LHON G9738T G-T A-S + - Reported 0 1
9789 MT-CO3 Myopathy T9789C T-C S-P - + Reported 0 1
9804 MT-CO3 LHON G9804A G-A A-T + - Reported 135 8
9861 MT-CO3 AD T9861C T-C F-L + - Reported 99 1
9952 MT-CO3 Mitochondrial Encephalopathy G9952A G-A W-Ter - + Reported 0 1
9957 MT-CO3 PEM / MELAS / NAION / HCM T9957C T-C F-L - + Reported 39 7
9966 MT-CO3 LHON possible helper variant G9966A G-A V-I . . Reported 328 1
9972 MT-CO3 EXIT & APS2 - possible link A9972C A-C I-L - + Reported 1 1
10086 MT-ND3 Hypertensive end-stage renal disease A10086G A-G N-D + - Reported 416 3
10158 MT-ND3 Leigh Disease / MELAS T10158C T-C S-P + + Cfrm 0 24
10191 MT-ND3 Leigh Disease / Leigh-like Disease / ESOC T10191C T-C S-P - + Cfrm 0 21
10197 MT-ND3 Leigh Disease / Dystonia / Stroke / LDYT G10197A G-A A-T + + Cfrm 4 10
10237 MT-ND3 LHON T10237C T-C I-T + - Reported 71 1
10254 MT-ND3 Leigh Disease G10254A G-A D-N - + Reported 0 1
10398 MT-ND3 Invasive Breast Cancer risk factor AD PD BD lithium response Type 2 DM A10398A A-A T-T + - Reported; lineage N marker except hg IJK 0 17
10398 MT-ND3 PD protective factor / longevity / altered cell pH / metabolic syndrome / breast cancer risk / ADHD / cognitive decline A10398G A-G T-A + - Reported; lineage L & M marker, also hg IJK 21096 29
10543 MT-ND4L LHON A10543G A-G H-R - + Reported 0 1
10591 MT-ND4L LHON T10591G T-G F-C - + Reported 0 1
10652 MT-ND4L BD / MDD-associated T10652C T-C I-I - + Reported 52 1
10663 MT-ND4L LHON T10663C T-C V-A + - Cfrm 1 9
10680 MT-ND4L LHON / synergistic combo 10680A + 12033G + 14258A G10680A G-A A-T + - Reported / possibly synergistic 18 3
11042 MT-ND4 Biliary atresia T11042C T-C Y-H - + Reported 0 1
11048 MT-ND4 Biliary atresia T11048del T-del frameshift - + Reported 0 1
11084 MT-ND4 AD, PD MELAS A11084G A-G T-A + + Conflicting reports 192 6
11232 MT-ND4 CPEO T11232C T-C L-P - + Reported 0 3
11240 MT-ND4 Leigh Syndrome C11240T C-T L-F - + Reported 0 1
11253 MT-ND4 LHON PD T11253C T-C I-T + - Reported 249 4
11365 MT-ND4 found in 1 HCM patient T11365C T-C A-A + - Reported 107 1
11375 MT-ND4 found in 1 sCJD patient A11375C A-C K-Q + - Reported 0 1
11467 MT-ND4 Altered brain pH / sCJD patients A11467G A-G L-L + - Reported 5838 3
11470 MT-ND4 MELAS A11470C A-C K-N - + Reported 0 1
11621 MT-ND4 CPEO, exercise intolerance 11621delTA TA-del frameshift - + Reported 0 1
11696 MT-ND4 LHON / LDYT / DEAF / hypertension helper mut. G11696A G-A V-I + + Reported - possibly synergistic 286 12
11777 MT-ND4 Leigh Disease C11777A C-A R-S - + Cfrm 0 11
11778 MT-ND4 LHON / Progressive Dystonia G11778A G-A R-H + + Cfrm 119 280
11832 MT-ND4 EXIT / oncocytoma G11832A G-A W-Ter - + Reported 0 6
11874 MT-ND4 LHON C11874A C-A T-N + - Reported 0 1
11919 MT-ND4 Thyroid Cancer Cell Line C11919T C-T S-F + - Reported 0 1
11994 MT-ND4 Oligoasthenoteratozoospermia (OAT) C11994T C-T T-I + - Conflicting reports 0 2
12026 MT-ND4 DM A12026G A-G I-V + - Reported 222 2
12027 MT-ND4 SZ-associated T12027C T-C I-T . . Reported 2 2
12033 MT-ND4 LHON synergistic combo 10680A + 12033G + 14258A A12033G A-G N-S + - Reported: individually neutral variants causing LHON in combination 21 1
12338 MT-ND5 DEAF1555 increased penetrance / LHON T12338C T-C M-T + - Conflicting reports 161 8
12361 MT-ND5 Non-alcoholic fatty liver disease A12361G A-G T-A + - Reported 256 1
12372 MT-ND5 Altered brain pH / sCJD patients G12372A G-A L-L + - Reported 6302 3
12397 MT-ND5 PD, early onset A12397G A-G T-A + - Reported 328 2
12425 MT-ND5 Mitochondrial Myopathy & Renal Failure A12425del A-del frameshift - + Reported 2 1
12477 MT-ND5 possible HCM susceptibility T12477C T-C S-S + - Reported 254 1
12622 MT-ND5 Leigh Disease G12622A G-A V-I + + Significance unclear 10 1
12631 MT-ND5 found in 2 sCJD patients T12631A T-A S-T + - Reported 0 2
12634 MT-ND5 Thyroid Cancer Cell Line A12634G A-G I-V + - Reported 130 2
12706 MT-ND5 Leigh Disease T12706C T-C F-L - + Cfrm 0 10
12770 MT-ND5 MELAS A12770G A-G E-G - + Reported 1 4
12782 MT-ND5 LHON T12782G T-G I-S - + Reported 0 1
12811 MT-ND5 Possible LHON factor T12811C T-C Y-H + - Reported 592 4
12848 MT-ND5 LHON C12848T C-T A-V - + Reported 0 3
13042 MT-ND5 Optic neuropathy/ retinopathy/ LD G13042A G-A A-T - + Cfrm 1 6
13045 MT-ND5 MELAS / LHON / Leigh overlap syndrome A13045C A-C M-L - + Reported 0 4
13046 MT-ND5 LHON/MELAS overlap syndrome T13046C T-C M-T - + Reported 0 1
13051 MT-ND5 LHON G13051A G-A G-S + - Cfrm 0 2
13063 MT-ND5 Adult-onset Encephalopathy / Ataxia G13063A G-A V-I - + Reported 2 3
13084 MT-ND5 MELAS / Leigh Disease A13084T A-T S-C - + Reported 0 4
13094 MT-ND5 Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue T13094C T-C V-A + + Cfrm 1 6
13135 MT-ND5 possible HCM susceptibility G13135A G-A A-T + - Reported 437 1
13271 MT-ND5 Exercise intolerance (EXIT) T13271C T-C L-P - + Reported 1 2
13276 MT-ND5 MIDD+retinopathy A13276G A-G M-V + - Conflicting Reports 1479 2
13379 MT-ND5 LHON A13379C A-C H-P + - Reported 0 1
13511 MT-ND5 Leigh-like syndrome A13511T A-T K-M - + Reported 0 1
13513 MT-ND5 Leigh Disease / MELAS / LHON-MELAS Overlap Syndrome / negative association w Carotid Atherosclerosis G13513A G-A D-N - + Cfrm 1 36
13514 MT-ND5 Leigh Disease / MELAS A13514G A-G D-G - + Cfrm 0 13
13528 MT-ND5 LHON-like, LHON, MELAS A13528G A-G T-A + - Reported 42 4
13580 MT-ND5 Thyroid Cancer C13580G C-G A-G - + Reported 0 1
13637 MT-ND5 Possible LHON factor A13637G A-G Q-R + - Reported 351 2
13708 MT-ND5 LHON / Increased MS risk / higher freq in PD-ADS G13708A G-A A-T + - Conflicting reports; hg J marker 3399 47
13730 MT-ND5 LHON G13730A G-A G-E - + Reported 0 7
13831 MT-ND5 Thyroid Cancer Cell Line C13831A C-A L-M - + Reported 3 1
13849 MT-ND5 MELAS A13849C A-C N-H + - Reported - possible secondary 1 1
13967 MT-ND5 Possible LHON factor C13967T C-T T-M + - Reported 144 3
14063 MT-ND5 Potentially functional variant cosegregating with LHON3635A T14063C T-C I-T + - Reported 26 1
14091 MT-ND5 Developmental delay, seizure, hearing loss, diabetes A14091T A-T K-N - + Reported 0 1
14163 MT-ND6 Possible deafness factor C14163T C-T A-T + - Conflicting reports 12 2
14258 MT-ND6 LHON synergistic combo 10680A + 12033G + 14258A also combo 14258A + 14582G G14258A G-A P-L + - Reported: individually neutral variants causing LHON in combination 22 1
14279 MT-ND6 LHON G14279A G-A S-L + - Reported 6 2
14319 MT-ND6 PD, early onset T14319C T-C N-D + - Reported 63 2
14325 MT-ND6 LHON T14325C T-C N-D + - Reported 49 1
14340 MT-ND6 SNHL C14340T C-T V-M + - Reported 22 1
14430 MT-ND6 Thyroid Cancer A14430G A-G W-R + - Reported 0 1
14439 MT-ND6 Mitochondrial Respiratory Chain Disorder G14439A G-A P-S + - Reported 0 1
14453 MT-ND6 MELAS / Leigh Disease G14453A G-A A-V - + Reported 0 5
14459 MT-ND6 LDYT / Leigh Disease / Carotid atherosclerosis risk G14459A G-A A-V + + Cfrm 3 30
14482 MT-ND6 LHON C14482A C-A M-I + + Cfrm 2 11
14482 MT-ND6 LHON C14482G C-G M-I + + Cfrm 0 5
14484 MT-ND6 LHON T14484C T-C M-V + + Cfrm 53 156
14487 MT-ND6 Dystonia / Leigh Disease / Ataxia / Ptosis / Epilepsy T14487C T-C M-V - + Cfrm 0 22
14495 MT-ND6 LHON A14495G A-G L-S - + Cfrm 1 7
14498 MT-ND6 LHON T14498C T-C Y-C + + Reported 0 4
14502 MT-ND6 LHON T14502C T-C I-V + - Reported - possibly synergistic 176 4
14568 MT-ND6 LHON C14568T C-T G-S + - Cfrm 6 9
14577 MT-ND6 MIDM T14577C T-C I-V - + Reported 410 1
14582 MT-ND6 LHON synergistic combo 14258A + 14582G A14582G A-G V-A + - Reported: individually neutral variants causing LHON in combination 238 1
14596 MT-ND6 LHON A14596T A-T I-M + - Reported 0 4
14600 MT-ND6 Leigh Disease w/optic atrophy G14600A G-A P-L + + Reported 0 3
14668 MT-ND6 Depressive Disorder associated C14668T C-T M-M + - Reported 1977 1
14787 MT-CYB PD / MELAS 14787delTTAA TTAA-del frameshift - + Reported 0 1
14831 MT-CYB LHON G14831A G-A A-T + - Reported 98 1
14841 MT-CYB LHON helper mut. A14841G A-G N-S - + Reported 21 1
14846 MT-CYB EXIT / possibly antiatherogenic, poss. myocardial infarction association G14846A G-A G-S - + Reported 0 9
14849 MT-CYB EXIT / Septo-Optic Dysplasia T14849C T-C S-P - + Cfrm 0 3
14864 MT-CYB MELAS T14864C T-C C-R - + Cfrm 2 1
15024 MT-CYB Possible DEAF modifier G15024A G-A C-Y + - Reported 31 1
15043 MT-CYB MDD-associated G15043A G-A G-G + - Reported 11201 2
15059 MT-CYB MM / carotid atherosclerosis risk G15059A G-A G-Ter - + Reported 0 6
15077 MT-CYB DEAF G15077A G-A E-K + - Reported 98 2
15084 MT-CYB EXIT G15084A G-A W-Ter - + Reported 0 2
15092 MT-CYB MELAS G15092A G-A G-S - + Reported 0 1
15150 MT-CYB EXIT G15150A G-A W-Ter - + Reported 0 1
15168 MT-CYB EXIT G15168A G-A W-Ter - + Reported 0 2
15170 MT-CYB EXIT G15170A G-A G-Ter - + Reported 0 1
15197 MT-CYB EXIT T15197C T-C S-P - + Reported 0 2
15209 MT-CYB Prader-Willi syndrome T15209C T-C Y-H + - Reported 4 1
15237 MT-CYB Potentially functional variant cosegregating with LHON3635A T15237C T-C I-T + - Reported 6 1
15242 MT-CYB Mitochondrial Encephalomyopathy G15242A G-A G-Ter - + Reported 0 2
15243 MT-CYB HCM G15243A G-A G-E - + Reported 0 3
15257 MT-CYB LHON G15257A G-A D-N + - Conflicting reports; hg J2a&b marker 734 44
15287 MT-CYB Possible DEAF helper mut. T15287C T-C F-L - + Reported; hg I6a & H10c marker 73 1
15395 MT-CYB Possible LHON factor A15395G A-G K-E + - Reported 2 1
15453 MT-CYB Isolated complex III deficiency T15453C T-C L-P + - Reported 7 1
15497 MT-CYB EXIT / Obesity G15497A G-A G-S + - Reported 204 4
15498 MT-CYB HiCM / WPW, DEAF G15498A G-A G-D - + Reported 12 6
15498 MT-CYB EXIT 15498del24 24 bp deletion GDPDNYTL-del - + Reported 0 2
15579 MT-CYB Multisystem Disorder, EXIT A15579G A-G Y-C - + Cfrm 0 4
15615 MT-CYB EXIT / Antimycin resistance G15615A G-A G-D - + Reported 0 3
15620 MT-CYB Leigh Syndrome helper mut C15620A C-A L-I - + Reported 0 1
15635 MT-CYB Polyvisceral failure T15635C T-C S-P + - Reported 2 1
15649 MT-CYB Multisystem Disorder, EXIT 15649-15666del 18 bp deletion ILAMIP-del - + Reported 0 1
15662 MT-CYB Complex mitochondriopathy-associated A15662G A-G I-V + + Reported 178 1
15674 MT-CYB LHON T15674C T-C S-P + - Reported 143 2
15693 MT-CYB Possibly LVNC cardiomyopathy-associated T15693C T-C M-T + - Reported 542 1
15699 MT-CYB Muscle Weakness SNHL and Migraine G15699C G-C R-P - + Reported 0 2
15723 MT-CYB EXIT G15723A G-A W-Ter - + Reported 0 1
15761 MT-CYB MM G15761A G-A G-Ter + Reported 0 1
15762 MT-CYB MM G15762A G-A G-E - + Reported 0 1
15773 MT-CYB LHON G15773A G-A V-M + - Possibly synergistic 52 1
15784 MT-CYB POAG - potential for association T15784C T-C P-P + - Reported 1719 3
15800 MT-CYB EXIT / Myopathy C15800T C-T Q-Ter - + Reported 0 2
15812 MT-CYB LHON G15812A G-A V-M + - Reported / Secondary; hg J2b marker 457 19
16081 MT-CR Cyclic Vomiting Syndrome A16081G A-G noncoding - + Reported 1 1
16093 MT-CR Cyclic Vomiting Syndrome T16093C T-C noncoding - + Reported 2715 1
16129 MT-CR Cyclic Vomiting Syndrome with Migraine G16129A G-A noncoding - + Reported 6170 1
16176 MT-CR Cyclic Vomiting Syndrome with Migraine C16176T C-T noncoding - + Reported 290 1
16183 MT-CR Melanoma patients A16183C A-C noncoding . . Reported 6453 1
16189 MT-CR Diabetes / Cardiomyopathy /cancer risk / mtDNA copy nbr / Metabolic Syndrome / Melanoma patients T16189C T-C noncoding + - Reported 12173 32
16192 MT-CR Melanoma patients C16192T C-T noncoding . . Reported 2003 1
16217 MT-CR Endometriosis T16217C T-C noncoding + - Reported 3482 1
16270 MT-CR Melanoma patients C16270T C-T noncoding . . Reported 2207 1
16300 MT-CR BD-associated A16300G A-G noncoding + - Reported 232 2
16318 MT-CR Non-alcoholic steatohepatitis - potential for association A16318C A-C noncoding . . Reported 92 1
16390 MT-CR POAG - potential for association G16390A G-A noncoding + - Reported 2834 3
16519 MT-CR Cyclic Vomiting Syndrome with Migraine /metastasis T16519T T-T noncoding + - Reported 0 4


Notes:

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

  • Homoplasmy = pure mutant mtDNAs.
  • Heteroplasmy = mixture of mutant and normal mtDNAs.
  • nd = not determined.
  • "Reported" status indicates that one or more publications have considered the mutation as possibly pathologic. This is not an assignment of pathogenicity by MITOMAP but is a report of literature. Previously, mutations with this status were termed "Prov" (provisional).
  • "Cfrm"(confirmed) status indicates that at least two or more independent laboratories have published reports on the pathogenicity of a specific mutation. These mutations are generally accepted by the mitochondrial research community as being pathogenic. A status of "Cfrm" is not an assignment of pathogenicity by MITOMAP but is a report of published literature. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of some of these mutations.
  • "P.M." (point mutation / polymorphism) status indicates that some published reports have determined the mutation to be a non-pathogenic polymorphism.
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Topic revision: r148 - 26 Mar 2019, ShipingZhang
MITOMAP

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