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

Last edited Apr 08, 2008
Locus Disease Allele Nucleotide
Position		 Nucldotide
Change		 Amino Acid
Change		 Homo-
plasmy		 Hetero-
plasmy		 Status Reference
MT-DLOOP Longevity T150C 150 C-T noncoding + + Multiple reports references
MT-ND1 MELAS; DEAF modulator T3308C 3308 T-C M-T - + P.M./modulator references
MT-ND1 NIDDM; HCM C3310T 3310 C-T P-S + + Prov references
MT-ND1 NIDDM; LHON; PEO G3316A 3316 G-A A-T + - Unclear references
MT-ND1 LHON/MELAS overlap G3376A 3376 G-A E-K + + Prov references
MT-ND1 LHON; NIDDM; CPT deficiency T3394C 3394 T-C Y-H + - Unclear references
MT-ND1 ADPD A3397G 3397 A-G M-V + - Prov references
MT-ND1 MIDD G3421A 3421 G-A V-I + - Single Report references
MT-ND1 LHON G3460A 3460 G-A A-T + + Cfrm references
MT-ND1 MELAS G3481A 3481 G-A E59K - + Prov references
MT-ND1 LHON G3496T 3496 G-T A-S + - Prov/Secondary references
MT-ND1 LHON C3497T 3497 C-T A-V + - Prov/Secondary references
MT-ND1 LHON G3635A 3635 G-A S-N + - Prov references
MT-ND1 MELAS G3697A 3697 G-A G-S - + Prov references
MT-ND1 LHON G3700A 3700 G-A A-T + - Prov references
MT-ND1 LHON G3733A 3733 G-A E-K + + Prov references
MT-ND1 Adult-Onset Dystonia A3796G 3796 A-G T-A - + Prov references
MT-ND1 PEG T3833A 3833 T-A L-Q + - Single Report references
MT-ND1 MELAS G3946A 3946 G-A E-K + + Prov references
MT-ND1 MELAS T3949C 3949 T-C Y-H - + Prov references
MT-ND1 LHON A4136G 4136 A-G Y-C + - Possibly synergistic references
MT-ND1 LHON T4160C 4160 T-C L-P + - Prov references
MT-ND1 LHON C4171A 4171 C-A L-M + + Prov references
MT-ND1 LHON; insulin resistance T4216C 4216 T-C Y-H + - P.M.- haplogroup J/T marker references
MT-ND2 LHON C4640A 4640 C-A I-M + - Prov references
MT-ND2 PEG T4648C 4648 T-C F-S + - Single Report references
MT-ND2 Leigh Syndrome T4681C 4681 T-C L-P - + Prov references
MT-ND2 NIDDM helper mutation A4833G 4833 A-G T-A + - Prov - haplogroup G marker references
MT-ND2 LHON; insulin resistance A4917G 4917 A-G N-D + - P.M.- haplogroup T marker references
MT-ND2 Longevity C5178A 5178 C-A L-M + - Prov- haplogroup D marker references
MT-ND2 LHON G5244A 5244 G-A G-S - + Prov references
MT-ND2 Progressive Encephalomyopathy C5452T 5452 C-T T-M + - Prov references
MT-ND2 AD; PD G5460A 5460 G-A A-T + + P.M. references
MT-ND2 AD G5460T 5460 G-T A-S + + Prov references
MT-CO1 Prostate Cancer C5911T 5911 C-T A-V + - Prov references
MT-CO1 Prostate Cancer G5913A 5913 G-A D-N + - Prov references
MT-CO1 Myoglobinuria; Exercise Intolerance G5920A 5920 G-A W-Ter - + Prov references
MT-CO1 Prostate Cancer A5935G 5935 A-G N-S + - Prov references
MT-CO1 Prostate Cancer G5973A 5973 G-A A-T + - Prov references
MT-CO1 Motor Neuron Disease 6020del5 6020 5bp deletion- ACLGG-AGPATer - + Prov references
MT-CO1 Prostate Cancer G6081A 6081 G-A A-T + - Prov references
MT-CO1 Prostate Cancer G6150A 6150 G-A V-I + - Prov references
MT-CO1 Prostate Cancer T6253C 6253 T-C M-T + - Prov references
MT-CO1 Prostate Cancer; LHON G6261A 6261 G-A A-T + - Prov references
MT-CO1 Prostate Cancer G6267A 6267 G-A A-T + - Prov references
MT-CO1 Prostate Cancer G6285A 6285 G-A V-I + - Prov references
MT-CO1 Prostate Cancer C6340T 6340 C-T T-I + - Prov references
MT-CO1 Prostate Cancer G6480A 6480 G-A V-I + - Prov references
MT-CO1 Therapy-resistant Epilepsy C6489A 6489 C-A L-I - + Prov references
MT-CO1 Prostate Cancer A6663G 6663 A-G I-V + - Prov references
MT-CO1 MM & Rhabdomyolysis G6708A 6708 G-A G-Ter - + Prov references
MT-CO1 Acquired Idiopathic Sideroblastic Anemia T6721C 6721 T-C M-T - + Prov references
MT-CO1 Acquired Idiopathic Sideroblastic Anemia T6742C 6742 T-C I-T - + Prov references
MT-CO1 Multisystem Disorder G6930A 6930 G-A G-Ter - + Prov references
MT-CO1 Prostate Cancer G7041A 7041 G-A V-I + - Prov references
MT-CO1 Prostate Cancer T7080C 7080 T-C F-L + - Prov references
MT-CO1 Prostate Cancer A7083G 7083 A-G I-V + - Prov references
MT-CO1 Prostate Cancer A7158G 7158 A-G I-V + - Prov references
MT-CO1 Prostate Cancer A7305C 7305 A-C M-L + - Prov references
MT-CO1 DEAF A7443G 7443 A-G Ter-G + - Prov references
MT-CO1 LHON; SNHL; DEAF G7444A 7444 G-A Ter-K + - Prov references
MT-CO1 DEAF A7445C 7445 A-C Ter-S + - Prov references
MT-CO1 SNHL A7445G 7445 A-G Ter-Ter + + Cfrm references
MT-CO2 Mitochondrial Encephalomyopathy T7587C 7587 T-C M-T - + Prov references
MT-CO2 LHON C7623T 7623 C-T T-I + - Prov references
MT-CO2 MM T7671A 7671 T-A M-K - + Prov references
MT-CO2 Progressive Encephalomyopathy G7859A 7859 G-A D-N + - Prov references
MT-CO2 PEG A7877C 7877 A-C K-Q + - Single Report references
MT-CO2 Multisystem Disorder G7896A 7896 G-A W-Ter - + Prov references
MT-CO2 Encephalopathy G7970T 7970 G-T E-Ter - + Prov references
MT-CO2 Rhabdomyolysis T7989C 7989 T-C L-P - + Prov references
MT-CO2 Lactic Acidosis 8042del2 8042 AT-del M-Ter - + Prov references
MT-CO2 SNHL A8108G 8108 A-G I-V + - Prov references
MT-ATP8 MIDD A8381G 8382 A-G T-A + - Prov references
MT-ATP6 Exercise Endurance C8794T 8794 C-T H-Y + - Prov references
MT-ATP6 LHON A8836G 8836 A-G M-V + - Prov references
MT-ATP6 BSN T8851C 8851 T-C W-R + + Prov references
MT-ATP6 Prostate Cancer C8932T 8932 C-T P-S + - Prov references
MT-ATP6 LDYT G8950A 8950 G-A V-I + - Prov references
MT-ATP6 NARP / Leigh Disease T8993C 8993 T-C L-P - + Cfrm references
MT-ATP6 NARP / Leigh Disease T8993G 8993 T-G L-R - + Cfrm references
MT-ATP6 LHON A9016G 9016 A-G I-V - + Prov references
MT-ATP6 LHON T9101C 9101 T-C I-T + - Prov references
MT-ATP6 LHON G9139A 9139 G-A A-T + - Possibly synergistic references
MT-ATP6 FBSN / Leigh Disease T9176C 9176 T-C L-P + + Cfrm references
MT-ATP6 Leigh Disease T9176G 9176 T-G L-R - + Prov references
MT-ATP6 Leigh Disease T9185C 9185 T-C L-P - + Prov references
MT-ATP6 Leigh Disease T9191C 9191 T-C L-P - + Prov references
MT-ATP6 Seizures / Lacticacidemia 9205del2 9205 TA-del Ter-M + - Prov references
MT-CO3 LHON G9438A 9438 G-A G-S + - Prov references
MT-CO3 Myoglobinuria 9487del15 9487 15 bp deletion- FAGFF-del - + Prov references
MT-CO3 Leigh-like C9537insC 9537 C-CC Q-frameshift + - Prov references
MT-CO3 LHON A9660C 9660 A-C M-L + - Prov references
MT-CO3 LHON G9738T 9738 G-T A-S + - Prov references
MT-CO3 Myopathy T9789C 9789 T-C S-P - + Prov references
MT-CO3 LHON G9804A 9804 G-A A-T + - Prov references
MT-CO3 AD T9861C 9861 T-C F-L + - Prov references
MT-CO3 Mitochondrial Encephalopathy G9952A 9952 G-A W-Ter - + Prov references
MT-CO3 PEM; MELAS; NAION T9957C 9957 T-C F-L - + Prov references
MT-ND3 Leigh Disease T10158C 10158 T-C S-P - + Cfrm references
MT-ND3 ESOC / Leigh-like Disease T10191C 10191 T-C S-P - + Cfrm references
MT-ND3 Leigh Disease; dystonia; stroke G10197A 10197 G-A A47T + + Cfrm references
MT-ND3 LHON T10237C 10237 T-C I-T + - Prov references
MT-ND3 Invasive Breast Cancer risk factor; AD;PD A10398A 10398 A-A T-T + - Prov; haplogroup HNTUVWXK2 marker references
MT-ND3 PD protective factor/longevity A10398G 10398 A-G T-A + - Prov; haplogroup IJK marker references
MT-ND4L LHON A10543G 10543 A-G H-R - + Prov references
MT-ND4L LHON T10591G 10591 T-G F-C - + Prov references
MT-ND4L LHON T10663C 10663 T-C V-A + - Prov references
MT-ND4 MELAS A11084G 11084 A-G T-A + + P.M. references
MT-ND4 CPEO T11232C 11232 T-C L-P - + Prov references
MT-ND4 LHON; PD T11253C 11253 T-C I-T + - Prov references
MT-ND4 LHON G11696A 11696 G-A V-I - + Prov references
MT-ND4 Leigh Disease C11777A 11777 C-A R-S - + Cfrm references
MT-ND4 LHON G11778A 11778 G-A R-H + + Cfrm references
MT-ND4 Progressive Dystonia G11778A 11778 G-A R-H + + Two reports references
MT-ND4 Exercise Intolerance G11832A 11832 G-A W-Ter - + Prov references
MT-ND4 LHON C11874A 11874 C-A T-N + - Prov references
MT-ND4 Thyroid Cancer Cell Line C11919T 11919 C-T S-F + - Prov references
MT-ND4 OAT C11994T 11994 C-T T-I + - Conflicting reports references
MT-ND4 DM A12026G 12026 A-G I-V + - Prov references
MT-ND5 Thyroid Cancer Cell Line A12634G 12634 A-G I-V + - Prov references
MT-ND5 Leigh Disease T12706C 12706 T-C F-L - + Cfrm references
MT-ND5 MELAS A12770G 12770 A-G E-G - + Prov references
MT-ND5 LHON T12782G 12782 T-G I-S - + Prov references
MT-ND5 LHON C12848T 12848 C-T A-V - + Prov references
MT-ND5 Optic neuropathy / retinopathy G13042A 13042 G-A A236T - + Prov references
MT-ND5 MELAS / LHON / Leigh overlap syndrome A13045C 13045 A-C M-L - + Prov references
MT-ND5 LHON G13051A 13051 G-A G-S + - Prov references
MT-ND5 Adult-onset Encephalopathy G13063A 13063 G-A V243I - + Prov references
MT-ND5 MELAS / Leigh Disease A13084T 13084 A-T S-C - + Prov references
MT-ND5 LHON A13379C 13379 A-C N-S + - Prov references
MT-ND5 MELAS / Leigh Disease G13513A 13513 G-A D-N - + Cfrm references
MT-ND5 MELAS A13514G 13514 A-G D-G - + Cfrm references
MT-ND5 LHON-like A13528G 13528 A-G T-A + - Prov references
MT-ND5 Thyroid Cancer C13580G 13580 C-G A-G - + Prov references
MT-ND5 LHON G13708A 13708 G-A A-T + - P.M.- haplogroup J marker references
MT-ND5 LHON G13730A 13730 G-A G-E - + Prov references
MT-ND5 Thyroid Cancer Cell Line C13831A 13831 C-A L-M - + Prov references
MT-ND6 LHON G14279A 14279 G-A S-L + - Prov references
MT-ND6 LHON T14325C 14325 T-C N-D + - Prov references
MT-ND6 SNHL C14340T 14340 C-T V-M + - Prov references
MT-ND6 Thyroid Cancer A14430G 14430 A-G W-R + - Prov references
MT-ND6 MELAS G14453A 14453 G-A A-V - + Prov references
MT-ND6 LDYT / Leigh Disease G14459A 14459 G-A A-V + + Cfrm references
MT-ND6 LHON C14482A 14482 C-A M-I + + Prov references
MT-ND6 LHON C14482G 14482 C-G M-I + + Cfrm references
MT-ND6 LHON T14484C 14484 T-C M-V + + Cfrm references
MT-ND6 Dystonia / Leigh Disease T14487C 14487 T-C M-V - + Cfrm references
MT-ND6 LHON A14495G 14495 A-G L-S - + Prov references
MT-ND6 LHON T14498C 14498 T-C Y-C + + Prov references
MT-ND6 LHON C14568T 14568 C-T G-S + - Cfrm references
MT-ND6 MIDM T14577C 14577 T-C I-V - + Prov references
MT-ND6 LHON A14596T 14596 A-T I-M + - Prov references
MT-ND6 Leigh Disease G14600A 14600 G-A P25L + + Prov references
MT-CYB PD / MELAS 14787del4 14787 TTAA-del I-frameshift - + Prov references
MT-CYB LHON G14831A 14831 G-A A-T + - Prov references
MT-CYB Exercise Intolerance G14846A 14846 G-A G-S - + Prov references
MT-CYB Septo-Optic Dysplasia T14849C 14849 T-C S-P - + Prov references
MT-CYB MM G15059A 15059 G-A G-Ter - + Prov references
MT-CYB Exercise Intolerance G15084A 15084 G-A W-Ter - + Prov references
MT-CYB Exercise Intolerance G15150A 15150 G-A W-Ter - + Prov references
MT-CYB Exercise Intolerance G15168A 15168 G-A W-Ter - + Prov references
MT-CYB Exercise Intolerance T15197C 15197 T-C S-P - + Prov references
MT-CYB Mitochondrial Encephalomyopathy G15242A 15242 G-A G-Ter - + Prov references
MT-CYB HCM G15243A 15243 G-A G-E - + Prov references
MT-CYB LHON G15257A 15257 G-A D-N + - P.M.- haplogroup J2 marker references
MT-CYB Exercise Intolerance; Obesity G15497A 15497 G-A G-S + - Prov references
MT-CYB Exercise Intolerance 15498del24 15498 24 bp deletion- GDPDNYTL-del - + Prov references
MT-CYB HCM G15498A 15498 G-A G-D - + Prov references
MT-CYB Multisystem Disorder A15579G 15579 A-G Y-C - + Prov references
MT-CYB Exercise Intolerance; Antimycin resistance G15615A 15615 G-A G-D - + Prov references
MT-CYB LHON T15674C 15674 T-C S-P + - Prov references
MT-CYB Muscle Weakness SNHL and Migraine G15699C 15699-G C R-P - + references
MT-CYB Exercise Intolerance G15723A 15723 G-A W-Ter - + Prov references
MT-CYB MM G15762A 15762 G-A G-E - + Prov references
MT-CYB LHON G15773A 15773 G-A M-T + - Possibly synergistic references
MT-CYB LHON G15812A 15812 G-A V-M + - Secondary references
MT-DLOOP Type 2 Diabetes; Cardiomyopathy; Endometrial cancer risk T16189C 16189 T-C noncoding + + Prov references


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