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

Last Edited: Jun 06, 2013

Locus Disease Allele Nucleotide
Position 		Nucleotide
Change 		Amino Acid Change Homo-plasmy Hetero-plasmy Status References
MT-DLOOP BD-associated C114T 114 C-T noncoding + - Reported references
MT-DLOOP Longevity / Cervical Carcinoma / HPV infection risk C150T 150 C-T noncoding + + Conflicting reports references
MT-DLOOP BD-associated T195C 195 T-C noncoding + - Reported references
MT-DLOOP AD-weakly associated C309CC 309 C-CCins(n) noncoding . . Reported references
MT-ND1 MELAS/DEAF enhancer/hypertension/LVNC T3308C 3308 T-C M-T - + P.M.-possibly synergistic references
MT-ND1 Sudden Infant Death T3308G 3308 T-G M-X + + Reported references
MT-ND1 NIDDM/HCM C3310T 3310 C-T P-S + + Reported references
MT-ND1 NIDDM/LHON/PEO G3316A 3316 G-A A-T + - Unclear references
MT-ND1 Cardiomyopathy G3337A 3337 G-A V-M + - Possibly synergistic references
MT-ND1 Encephaloneuromyopathy C3340T 3340 C-T P-S + - Reported references
MT-ND1 LHON MELAS overlap G3376A 3376 G-A E-K + + Reported references
MT-ND1 MELAS G3380A 3380 G-A R-Q - + Reported references
MT-ND1 LHON/NIDDM/CPTdeficiency T3394C 3394 T-C Y-H + - Reported/Unclear references
MT-ND1 HCM with hearing loss A3395G 3395 A-G Y-C - + Reported references
MT-ND1 NSHL / MIDD T3396C 3396 T-C syn + - Warrants further study references
MT-ND1 ADPD / Possibly LVNC-cardiomyopathy associated A3397G 3397 A-G M-V + - Reported references
MT-ND1 DMDF+HCM / GDM / possibly LVNC cardiomyopathy-associated T3398C 3398 T-C M-T + - Reported references
MT-ND1 Gestational Diabetes (GDM) A3399T 3399 A-T M-I + - Warrants further study references
MT-ND1 found in 1 HCM patient G3407A 3407 G-A R-H + - Reported references
MT-ND1 AMegL A3418G 3418 A-G N-D + - Reported references
MT-ND1 MIDD G3421A 3421 G-A V-I + - Reported references
MT-ND1 LHON G3460A 3460 G-A A-T + + Cfrm references
MT-ND1 MELAS G3481A 3481 G-A E-K - + Reported references
MT-ND1 Progressive Encephalomyopathy G3481A 3481 G-A E-K - + Reported references
MT-ND1 LHON G3496T 3496 G-T A-S + - Reported/Secondary references
MT-ND1 LHON C3497T 3497 C-T A-V + - Reported/Secondary references
MT-ND1 LHON G3635A 3635 G-A S-N + - Cfrm references
MT-ND1 BD-associated T3644C 3644 T-C V-A . . Reported references
MT-ND1 Leigh Syndrome G3688A 3688 G-A A-T + - Reported references
MT-ND1 MELAS/LS/LDYT G3697A 3697 G-A G-S - + Cfrm references
MT-ND1 LHON G3700A 3700 G-A A-T + - Cfrm references
MT-ND1 LHON G3733A 3733 G-A E-K + + Cfrm references
MT-ND1 LHON G3733C 3733 G-C E-Q - + Reported references
MT-ND1 LHON G3736A 3736 G-A V-I . . Reported references
MT-ND1 Adult-Onset Dystonia A3796G 3796 A-G T-A - + Reported references
MT-ND1 PEG T3833A 3833 T-A L-Q + - Reported references
MT-ND1 LHON +limb claudication T3866C 3866 T-C I-T . . Reported references
MT-ND1 Progressive Encephalomyopathy/LS G3890A 3890 G-A R-Q - + Reported references
MT-ND1 MELAS G3946A 3946 G-A E-K + + Reported references
MT-ND1 MELAS T3949C 3949 T-C Y-H - + Reported references
MT-ND1 NAION-assoicated G4132A 4132 G-A A-T + - Warrants further study references
MT-ND1 LHON A4136G 4136 A-G Y-C + - Possibly synergistic references
MT-ND1 Developmental delay, seizure, hypotonia G4142A 4142 G-A R-Q - + Reported references
MT-ND1 LHON T4160C 4160 T-C L-P + - Reported references
MT-ND1 LHON C4171A 4171 C-A L-M + + Cfrm references
MT-ND1 LHON/Insulin Resistance T4216C 4216 T-C Y-H + - P.M. - haplogroup J/T marker references
MT-ND2 LHON candidate C4633G 4633 C-G A-G + - Reported references
MT-ND2 LHON C4640A 4640 C-A I-M + - Reported references
MT-ND2 PEG T4648C 4648 T-C F-S + - Reported references
MT-ND2 possible PD risk factor G4659A 4659 G-A A-T + - Reported references
MT-ND2 Leigh Syndrome T4681C 4681 T-C L-P - + Reported references
MT-ND2 SZ-associated A4769A 4769 A-A syn + - Reported references
MT-ND2 NIDDM helper mutation; AD, PD A4833G 4833 A-G T-A + - Reported; haplogroup G marker references
MT-ND2 LHON T4852A 4852 T-A L-Q + - Reported references
MT-ND2 LHON/Insulin Resistance/AMD/NRTI-PN A4917G 4917 A-G N-D + - Reported; haplogroup T marker references
MT-ND2 Developmental delay, seizure, cardiomyopathy, lactic acidosis A5001AA 5001 A-AA I178NfsX22 - + Reported references
MT-ND2 Longevity; Extraversion MI/AMS protection; blood iron metabolism C5178A 5178 C-A L-M + - Reported; haplogroup D marker references
MT-ND2 LHON G5244A 5244 G-A G-S - + Reported references
MT-ND2 Progressive Encephalomyopathy C5452T 5452 C-T T-M + - Reported references
MT-ND2 AD/PD G5460A 5460 G-A A-T + + P.M. references
MT-ND2 AD G5460T 5460 G-T A-S + + Reported references
MT-CO1 Prostate Cancer C5911T 5911 C-T A-V + - Reported references
MT-CO1 Prostate Cancer G5913A 5913 G-A D-N + - Reported references
MT-CO1 Myoglobinuria/EXIT G5920A 5920 G-A W-Ter - + Reported references
MT-CO1 Prostate Cancer A5935G 5935 A-G N-S + - Reported references
MT-CO1 Prostate Cancer G5973A 5973 G-A A-T + - Reported references
MT-CO1 Motor Neuron Disease 6020del5 6020 CGAGC-del AELGQ-AGPATer - + Reported references
MT-CO1 Prostate Cancer G6081A 6081 G-A A-T + - Reported references
MT-CO1 Prostate Cancer G6150A 6150 G-A V-I + - Reported references
MT-CO1 Prostate Cancer T6253C 6253 T-C M-T + - Reported references
MT-CO1 Prostate Cancer/LHON G6261A 6261 G-A A-T + - Reported references
MT-CO1 Prostate Cancer G6267A 6267 G-A A-T + - Reported references
MT-CO1 Prostate Cancer G6285A 6285 G-A V-I + - Reported references
MT-CO1 EXIT (Exercise Intolerance) C6328T 6328 C-T S-F + - Reported references
MT-CO1 Prostate Cancer C6340T 6340 C-T T-I + - Reported references
MT-CO1 Prostate Cancer G6480A 6480 G-A V-I + - Reported references
MT-CO1 Therapy-Resistant Epilepsy C6489A 6489 C-A L-I - + Reported references
MT-CO1 MELAS-like syndrome C6597A 6597 C-A Q-K - + Reported references
MT-CO1 Prostate Cancer A6663G 6663 A-G I-V + - Reported references
MT-CO1 Myopathy A6698del 6698 A-del K-fs-Ter - + Reported references
MT-CO1 MM & Rhabdomyolysis G6708A 6708 G-A G-Ter - + Reported references
MT-CO1 Acquired Idiopathic Sideroblastic Anemia T6721C 6721 T-C M-T - + Reported references
MT-CO1 Acquired Idiopathic Sideroblastic Anemia T6742C 6742 T-C I-T - + Reported references
MT-CO1 Multisystem Disorder G6930A 6930 G-A G-Ter - + Reported references
MT-CO1 Mild EXIT and MR G6955A 6955 G-A G-D + + Reported references
MT-CO1 MELAS-like syndrome G7023A 7023 G-A V-M - + Reported references
MT-CO1 Prostate Cancer G7041A 7041 G-A V-I + - Reported references
MT-CO1 Prostate Cancer T7080C 7080 T-C F-L + - Reported references
MT-CO1 Prostate Cancer A7083G 7083 A-G I-V + - Reported references
MT-CO1 Prostate Cancer A7158G 7158 A-G I-V + - Reported references
MT-CO1 Prostate Cancer A7305C 7305 A-C M-L + - Reported references
MT-CO1 DEAF A7443G 7443 A-G Ter-G + - Reported references
MT-CO1 LHON/SNHL/DEAF G7444A 7444 G-A Ter-K + - Reported references
MT-CO1 DEAF A7445C 7445 A-C Ter-S + - Reported references
MT-CO1 SNHL A7445G 7445 A-G Ter-Ter + + Cfrm references
MT-CO2 Mitochondrial Encephalomyopathy T7587C 7587 T-C M-T - + Reported references
MT-CO2 Possible LHON helper variant G7598A 7598 G-A A-T - + Reported references
MT-CO2 LHON C7623T 7623 C-T T-I + - Reported references
MT-CO2 PD risk factor G7637A 7637 G-A E-K - + Reported references
MT-CO2 MM T7671A 7671 T-A M-K - + Reported references
MT-CO2 Possible HCM susceptibility G7697A 7697 G-A V-I + - Reported references
MT-CO2 Alpers-Huttennlocher-like G7706A 7706 G-A A41T + Reported references
MT-CO2 Progressive Encephalomyopathy G7859A 7859 G-A D-N + - Reported references
MT-CO2 LHON C7868T 7868 C-T L-F + - Possibly synergistic references
MT-CO2 PEG glaucoma A7877C 7877 A-C K-Q + - Reported references
MT-CO2 Multisystem Disorder G7896A 7896 G-A W-Ter - + Reported references
MT-CO2 Encephalopathy G7970T 7970 G-T E-Ter - + Reported references
MT-CO2 Rhabdomyolysis T7989C 7989 T-C L-P - + Reported references
MT-CO2 Developmental delay, ataxia, seizure, hypotonia, lactic acidosis T8010C 8010 T-C V-A - + Reported references
MT-CO2 Lactic Acidosis 8042del2 8042 AT-del M-Ter - + Reported references
MT-CO2 DEAF G8078A 8078 G-A V-I + - Reported references
MT-CO2 SNHL A8108G 8108 A-G I-V + - Reported references
MT-ATP8 MIDD / LVNC cardiomyopathy-assoc. A8381G 8381 A-G T-A + - Reported references
MT-ATP8 Reversible Brain Pseudoatrophy C8393T 8393 C-T P-S - + Reported references
MT-ATP8 Severe mitochondrial disorder A8411G 8411 A-G M-V + - Reported references
MT-ATP8 Longevity C8414T 8414 C-T L-F + - Reported references
MT-ATP8/6? Infantile cardiomyopathy T8528C 8528 T-C W-R (ATP8); M(start)-T (ATP6) + + Reported references
MT-ATP8/6? Apical HCM G8529A 8529 G-A W-X (ATP8); M-M (ATP6) + - Reported references
MT-ATP8/6? Possibly LVNC cardiomyopathy-associated C8558T 8558 C-T P-S (ATP8); A-V (ATP6) + - Reported references
MT-ATP6 LHON T8668C 8668 T-C W-R + - Reported references
MT-ATP6 Suspected mito disease G8719A 8719 G-A G-Ter - + Reported references
MT-ATP6 MILS protective factor T8741G 8741 T-G L-R - + Reported references
MT-ATP6 Exercise Endurance/Coronary Atherosclerosis risk C8794T 8794 C-T H-Y + - Reported references
MT-ATP6 MILS protective factor A8795G 8795 A-G H-R - + Reported references
MT-ATP6 LHON A8836G 8836 A-G M-V + - Reported references
MT-ATP6 BSN T8851C 8851 T-C W-R + + Reported references
MT-ATP6 Prostate Cancer C8932T 8932 C-T P-S + - Reported references
MT-ATP6 LDYT G8950A 8950 G-A V-I + - Reported references
MT-ATP6 NARP/Leigh Disease/MILS/other T8993C 8993 T-C L-P - + Cfrm references
MT-ATP6 NARP/Leigh Disease/MILS/other T8993G 8993 T-G L-R - + Cfrm references
MT-ATP6 LHON A9016G 9016 A-G I-V - + Reported references
MT-ATP6 Ataxia syndromes T9035C 9035 T-C L-P + - Reported references
MT-ATP6 PD protective factor G9055A 9055 G-A A-T + - Reported references
MT-ATP6 Possibly LVNC cardiomyopathy-associated A9058G 9058 A-G T-A + - Reported references
MT-ATP6 Predisposition to anti-retroviral mito disease T9098C 9098 T-C I-T + - Reported references
MT-ATP6 LHON T9101C 9101 T-C I-T + - Reported references
MT-ATP6 LHON G9139A 9139 G-A A-T + - Reported - possibly synergistic references
MT-ATP6 FBSN/Leigh Disease T9176C 9176 T-C L-P + + Cfrm references
MT-ATP6 Leigh Disease/Spastic Paraplegia T9176G 9176 T-G L-R - + Cfrm references
MT-ATP6 Leigh Disease/Ataxia syndromes/ NARP-like disease T9185C 9185 T-C L-P + + Cfrm references
MT-ATP6 Leigh Disease T9191C 9191 T-C L-P - + Reported references
MT-ATP6 Seizures/Lacticacidemia 9205del2 9205 TA-del Ter-M + - Reported references
MT-CO3 MM w lactic acidosis G9379A 9379 G-A W-Ter - + Reported references
MT-CO3 LHON G9438A 9438 G-A G-S + - Conflicting reports references
MT-CO3 Leigh Disease T9478C 9478 T-C V-A - + Reported references
MT-CO3 Myoglobinuria 9480del15 9479 TTTTTCTTCGCAGGA-del FFFAG-del - + Reported references
MT-CO3 Leigh Disease C9537insC 9537 C-CC Q-frameshift + - Reported references
MT-CO3 Sporadic bilateral optic neuropathy G9544A 9544 G-A G-E . . Reported references
MT-CO3 Rhabdomyolysis C9559delC 9559 C-del P-frameshift-Ter - + Reported references
MT-CO3 LHON A9660C 9660 A-C M-L + - Reported references
MT-CO3 LHON G9738T 9738 G-T A-S + - Reported references
MT-CO3 Myopathy T9789C 9789 T-C S-P - + Reported references
MT-CO3 LHON G9804A 9804 G-A A-T + - Reported references
MT-CO3 AD T9861C 9861 T-C F-L + - Reported references
MT-CO3 Mitochondrial Encephalopathy G9952A 9952 G-A W-Ter - + Reported references
MT-CO3 PEM/MELAS/NAION T9957C 9957 T-C F-L - + Reported references
MT-CO3 EXIT & APS2 - possible link A9972C 9972 A-C I-L - + Warrants further study references
MT-ND3 Leigh Disease T10158C 10158 T-C S-P + + Cfrm references
MT-ND3 Leigh Disease/Leigh-like Disease/ESOC T10191C 10191 T-C S-P - + Cfrm references
MT-ND3 Leigh Disease/Dystonia/Stroke/LDYT G10197A 10197 G-A A-T + + Cfrm references
MT-ND3 LHON T10237C 10237 T-C I-T + - Reported references
MT-ND3 Invasive Breast Cancer risk factor; AD; PD; BD lithium response; Type 2 DM A10398A 10398 A-A T-T + - Reported; haplogroup HNTUVWXK2 marker references
MT-ND3 PD protective factor/longevity/altered cell pH/metabolic syndrome/breast cancer risk A10398G 10398 A-G T-A + - Reported; haplogroup IJK marker references
MT-ND4L LHON A10543G 10543 A-G H-R - + Reported references
MT-ND4L LHON T10591G 10591 T-G F-C - + Reported references
MT-ND4L BD/MDD-associated T10652C 10652 T-C syn - + Reported references
MT-ND4L LHON T10663C 10663 T-C V-A + - Cfrm references
MT-ND4L LHON G10680A 10680 G-A A-T + - Reported - possibly synergistic references
MT-ND4 AD, PD; MELAS A11084G 11084 A-G T-A + + Reported; P.M. references
MT-ND4 CPEO T11232C 11232 T-C L-P - + Reported references
MT-ND4 LHON; PD T11253C 11253 T-C I-T + - Reported references
MT-ND4 found in 1 HCM patient T11365C 11365 T-C syn + - Reported references
MT-ND4 Altered brain pH A11467G 11467 A-G syn + - Reported references
MT-ND4 CPEO, exercise intolerance TA11622del 11622 TA-del frameshift - + Reported references
MT-ND4 LHON/LDYT/DEAF/hypertension helper mut. G11696A 11696 G-A V-I + + Reported - possibly synergistic 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 + + Cfrm references
MT-ND4 EXIT/oncocytoma G11832A 11832 G-A W-Ter - + Reported references
MT-ND4 LHON C11874A 11874 C-A T-N + - Reported references
MT-ND4 Thyroid Cancer Cell Line C11919T 11919 C-T S-F + - Reported references
MT-ND4 OAT C11994T 11994 C-T T-I + - Conflicting reports references
MT-ND4 DM A12026G 12026 A-G I-V + - Reported references
MT-ND4 SZ-associated T12027C 12027 T-C I-T . . Reported references
MT-ND5 DEAF1555 increased penetrance / LHON T12338C 12338 T-C M-T + - Conflicting reports references
MT-ND5 Nonalcoholic fatty liver disease A12361G 12361 A-G T-A + - Reported references
MT-ND5 Altered brain pH G12372A 12372 G-A syn + - Reported references
MT-ND5 PD, early onset A12397G 12397 A-G T-A + - Reported references
MT-ND5 Mitochondrial Myopathy & Renal Failure A12425del 12425 A-del N-frameshift - + Reported references
MT-ND5 possible HCM susceptibility T12477C 12477 T-C syn + - Reported references
MT-ND5 Leigh Disease G12622A 12622 G-A V-I + + Significance unclear references
MT-ND5 Thyroid Cancer Cell Line A12634G 12634 A-G I-V + - Reported references
MT-ND5 Leigh Disease T12706C 12706 T-C F-L - + Cfrm references
MT-ND5 MELAS A12770G 12770 A-G E-G - + Reported references
MT-ND5 LHON T12782G 12782 T-G I-S - + Reported references
MT-ND5 Possible LHON factor T12811C 12811 T-C Y-H + - Reported references
MT-ND5 LHON C12848T 12848 C-T A-V - + Reported references
MT-ND5 Optic neuropathy/retinopathy/LD G13042A 13042 G-A A-T - + Reported references
MT-ND5 MELAS/LHON/Leigh overlap syndrome A13045C 13045 A-C M-L - + Reported references
MT-ND5 LHON G13051A 13051 G-A G-S + - Reported references
MT-ND5 Adult-onset Encephalopathy/Ataxia G13063A 13063 G-A V-I - + Reported references
MT-ND5 MELAS/Leigh Disease A13084T 13084 A-T S-C - + Reported references
MT-ND5 Ataxia+PEO/MELAS, LD, myoclonus, fatigue T13094C 13094 T-C V-A + + Reported references
MT-ND5 possible HCM susceptibility G13135A 13135 G-A A-T + - Reported references
MT-ND5 Exercise intolerance (EXIT) T13721C 13271 T-C L-P - + Reported references
MT-ND5 LHON A13379C 13379 A-C N-S + - Reported references
MT-ND5 Leigh-like syndrome A13511T 13511 A-T K-M - + Reported references
MT-ND5 Leigh Disease/MELAS/LHON-MELAS Overlap Syndrome G13513A 13513 G-A D-N - + Cfrm references
MT-ND5 Leigh Disease/MELAS A13514G 13514 A-G D-G - + Cfrm references
MT-ND5 LHON-like, LHON, MELAS A13528G 13528 A-G T-A + - Reported references
MT-ND5 Thyroid Cancer C13580G 13580 C-G A-G - + Reported references
MT-ND5 Possible LHON factor A13637G 13637 A-G Q-R + - Reported references
MT-ND5 LHON/Increased MS risk/higher freq in PD-ADS G13708A 13708 G-A A-T + - P.M. - haplogroup J marker references
MT-ND5 LHON G13730A 13730 G-A G-E - + Reported references
MT-ND5 Thyroid Cancer Cell Line C13831A 13831 C-A L-M - + Reported references
MT-ND5 MELAS A13849C 13849 A-C N-H + - Reported - possible secondary references
MT-ND5 Possible LHON factor C13967T 13967 C-T T-M + - Reported references
MT-ND5 Developmental delay, seizure, hearing loss, diabetes A14091T 14091 A-T K-N - + Reported references
MT-ND6 Possible deafness factor C14163T 14163 C-T A-T + - Conflicting reports references
MT-ND6 LHON G14279A 14279 G-A S-L + - Reported references
MT-ND6 PD, early onset T14319C 14319 T-C N-D + - Reported references
MT-ND6 LHON T14325C 14325 T-C N-D + - Reported references
MT-ND6 SNHL C14340T 14340 C-T V-M + - Reported references
MT-ND6 Thyroid Cancer A14430G 14430 A-G W-R + - Reported references
MT-ND6 MELAS G14453A 14453 G-A A-V - + Reported references
MT-ND6 LDYT/Leigh Disease G14459A 14459 G-A A-V + + Cfrm references
MT-ND6 LHON C14482A 14482 C-A M-I + + Cfrm 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/Ataxia T14487C 14487 T-C M-V - + Cfrm references
MT-ND6 LHON A14495G 14495 A-G L-S - + Cfrm references
MT-ND6 LHON T14498C 14498 T-C Y-C + + Reported references
MT-ND6 LHON T14502C 14502 T-C I-V + - Reported - possibly synergistic references
MT-ND6 LHON C14568T 14568 C-T G-S + - Cfrm references
MT-ND6 MIDM T14577C 14577 T-C I-V - + Reported references
MT-ND6 LHON A14596T 14596 A-T I-M + - Reported references
MT-ND6 Leigh Disease G14600A 14600 G-A P-L + + Reported references
MT-ND6 MDD-associated C14668T 14668 C-T syn + - Reported references
MT-CYB PD/MELAS 14787del4 14787 TTAA-del I-frameshift - + Reported references
MT-CYB LHON G14831A 14831 G-A A-T + - Reported references
MT-CYB LHON helper mut. A14841G 14841 A-G N-S - + Reported references
MT-CYB EXIT G14846A 14846 G-A G-S - + Reported references
MT-CYB Septo-Optic Dysplasia T14849C 14849 T-C S-P - + Reported references
MT-CYB Possible DEAF modifier G15024A 15024 G-A C-Y + - Reported references
MT-CYB MDD-associated G15043A 15043 G-A syn + - Reported references
MT-CYB MM G15059A 15059 G-A G-Ter - + Reported references
MT-CYB DEAF G15077A 15077 G-A E-K + - Reported references
MT-CYB EXIT G15084A 15084 G-A W-Ter - + Reported references
MT-CYB EXIT G15150A 15150 G-A W-Ter - + Reported references
MT-CYB EXIT G15168A 15168 G-A W-Ter - + Reported references
MT-CYB EXIT T15197C 15197 T-C S-P - + Reported references
MT-CYB Mitochondrial Encephalomyopathy G15242A 15242 G-A G-Ter - + Reported references
MT-CYB HCM G15243A 15243 G-A G-E - + Reported references
MT-CYB LHON G15257A 15257 G-A D-N + - P.M. - haplogroup J2 marker references
MT-CYB Possible DEAF helper mut. T15287C 15287 T-C F-L - + Further studies needed references
MT-CYB Possible LHON factor A15395G 15395 A-G K-E + - Reported references
MT-CYB EXIT/Obesity G15497A 15497 G-A G-S + - Reported references
MT-CYB EXIT 15498del24 15498 24 bp-deletion GDPDNYTL-del - + Reported references
MT-CYB HiCM / WPW, DEAF G15498A 15498 G-A G-D - + Reported references
MT-CYB Multisystem Disorder A15579G 15579 A-G Y-C - + Reported references
MT-CYB EXIT/Antimycin resistance G15615A 15615 G-A G-D - + Reported references
MT-CYB Complex mitochondriopathy-associated G15662 15662 G-A I-V + - Reported references
MT-CYB LHON T15674C 15674 T-C S-P + - Reported references
MT-CYB Possibly LVNC cardiomyopathy-associated T15693C 15693 T-C M-T + - Reported references
MT-CYB Muscle Weakness SNHL and Migraine G15699C 15699 G-C R-P - + Reported references
MT-CYB EXIT G15723A 15723 G-A W-Ter - + Reported references
MT-CYB MM G15761X 15761 G-X G339X + Reported references
MT-CYB MM G15762A 15762 G-A G-E - + Reported references
MT-CYB LHON G15773A 15773 G-A V-M + - Possibly synergistic references
MT-CYB EXIT/Myopathy C15800T 15800 C-T Q-Ter - + Reported references
MT-CYB LHON G15812A 15812 G-A V-M + - Secondary references
MT-DLOOP NIDDM/Cardiomyopathy/ Endometrial cancer risk/ mtDNA copy nbr/ Metabolic Syndrome T16189C 16189 T-C noncoding + - Reported references
MT-DLOOP BD-associated A16300G 16300 A-G noncoding + - Reported references
MT-DLOOP Cyclic Vomiting Syndrome with Migraine C16519T 16519 C-T noncoding + - Reported 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

  • 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: r2 - 19 Jun 2013 - 06:37:53 - DougStewart
 
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