Report date: 2020-12-04

Mitomap's Confirmed Pathogenic Mutations

For more details, including current frequencies and available sequences, see
Index Locus
Type
Locus Associated Diseases Allele Position aaΔ or RNA Last Status Update
1tRNAMT-TFMELAS / MM & EXITm.583G>A583tRNA Phe2018.04.18
2tRNAMT-TFMaternally inherited epilepsy / kidney diseasem.616T>C616tRNA Phe2019.01.19
3tRNAMT-RNR1DEAFm.1494C>T149412S rRNA2018.04.18
4tRNAMT-RNR1DEAF; autism spectrum intellectual disability; possibly antiatheroscleroticm.1555A>G155512S rRNA2018.04.18
5tRNAMT-TVAMDFm.1606G>A1606tRNA Val2018.04.18
6tRNAMT-TVMNGIE-like disease / MELASm.1630A>G1630tRNA Val2018.04.18
7tRNAMT-TVLeigh Syndrome / HCM / MELASm.1644G>A1644tRNA Val2018.04.18
8tRNAMT-TL1MELAS / Leigh Syndrome / DMDF / MIDD / SNHL / CPEO / MM / FSGS / ASD / Cardiac+multi-organ dysfunctionm.3243A>G3243tRNA Leu (UUR)2018.04.18
9tRNAMT-TL1MM / MELAS / SNHL / CPEOm.3243A>T3243tRNA Leu (UUR)2018.04.18
10tRNAMT-TL1MELAS; possible atherosclerosis riskm.3256C>T3256tRNA Leu (UUR)2018.04.18
11tRNAMT-TL1MELAS / Myopathym.3258T>C3258tRNA Leu (UUR)2018.04.18
12tRNAMT-TL1MMC / MELASm.3260A>G3260tRNA Leu (UUR)2018.04.18
13tRNAMT-TL1PEM / retinal dystrophy in MELASm.3271delT3271tRNA Leu (UUR)2018.04.18
14tRNAMT-TL1MELAS / DMm.3271T>C3271tRNA Leu (UUR)2018.04.18
15tRNAMT-TL1Myopathym.3280A>G3280tRNA Leu (UUR)2018.04.18
16tRNAMT-TL1MELAS / Myopathy / Deafness+Cognitive Impairmentm.3291T>C3291tRNA Leu (UUR)2018.04.18
17tRNAMT-TL1MMm.3302A>G3302tRNA Leu (UUR)2018.04.18
18tRNAMT-TL1MMCm.3303C>T3303tRNA Leu (UUR)2018.04.18
19CodingMT-ND1LHON MELAS overlapm.3376G>A3376E-K2018.04.18
20CodingMT-ND1LHONm.3460G>A3460A-T2018.04.18
21CodingMT-ND1LHONm.3635G>A3635S-N2018.04.18
22CodingMT-ND1MELAS / Leigh Syndrome / LDYT / BSNm.3697G>A3697G-S2018.04.18
23CodingMT-ND1LHONm.3700G>A3700A-T2018.04.18
24CodingMT-ND1LHONm.3733G>A3733E-K2018.04.18
25CodingMT-ND1Progressive Encephalomyopathy / Leigh Syndrome / Optic Atrophym.3890G>A3890R-Q2018.04.18
26CodingMT-ND1EXIT+myalgia / severe LA+cardiac / 3-MGA aciduriam.3902_3908
ACCTTGCinv
3902DLA-GKV2018.04.18
27CodingMT-ND1LHON / Leigh-like phenotypem.4171C>A4171L-M2018.04.18
28tRNAMT-TICPEO / MSm.4298G>A4298tRNA Ile2018.04.18
29tRNAMT-TIMICMm.4300A>G4300tRNA Ile2018.04.18
30tRNAMT-TICPEOm.4308G>A4308tRNA Ile2018.04.18
31tRNAMT-TQEncephalopathy / MELASm.4332G>A4332tRNA Gln2018.04.18
32tRNAMT-TMMyopathy / MELAS / Leigh Syndromem.4450G>A4450tRNA Met2019.03.06
33tRNAMT-TWMitochondrial myopathym.5521G>A5521tRNA Trp2018.04.18
34tRNAMT-TWLeigh Syndromem.5537_5538insT5537tRNA Trp2018.04.18
35tRNAMT-TAMyopathym.5650G>A5650tRNA Ala2018.04.18
36tRNAMT-TNCPEO+ptosis+proximal myopathym.5690A>G5690tRNA Asn2018.04.18
37tRNAMT-TNCPEO / MMm.5703G>A5703tRNA Asn2018.04.18
38tRNAMT-TNMultiorgan failure / myopathym.5728T>C5728tRNA Asn2019.08.23
39CodingMT-CO1SNHLm.7445A>G7445Term-Term2018.04.18
40tRNAMT-TS1 precursorSNHLm.7445A>G7445tRNA Ser (UCN) precursor2018.04.18
41tRNAMT-TS1PEM / AMDF / Motor neuron disease-likem.7471_7472insC7471tRNA Ser (UCN)2018.04.18
42tRNAMT-TS1MM / EXITm.7497G>A7497tRNA Ser (UCN)2018.04.18
43tRNAMT-TS1SNHLm.7510T>C7510tRNA Ser (UCN)2018.04.18
44tRNAMT-TS1SNHL/Deafnessm.7511T>C7511tRNA Ser (UCN)2018.04.18
45tRNAMT-TKSevere adult-onset multisymptom myopathy / Myoclonic epilepsym.8306T>C8306tRNA Lys2020.02.04
46tRNAMT-TKMNGIE / Progressive mito cytopathym.8313G>A8313tRNA Lys2020.02.10
47tRNAMT-TKMyopathy / Exercise Intolerance / Eye disease+SNHLm.8340G>A8340tRNA Lys2019.08.23
48tRNAMT-TKMERRF; Other - LD / Depressive mood disorder / leukoencephalopathy / HiCMm.8344A>G8344tRNA Lys2018.04.18
49tRNAMT-TKMERRFm.8356T>C8356tRNA Lys2018.04.18
50tRNAMT-TKMICM+DEAF / MERRF / Autism / Leigh Syndrome / Ataxia+Lipomasm.8363G>A8363tRNA Lys2018.04.18
51CodingMT-ATP8/6Infantile cardiomyopathym.8528T>C8528ATP8:W-R ATP6:M-T2018.04.18
52CodingMT-ATP6BSN / Leigh syndromem.8851T>C8851W-R2018.04.18
53CodingMT-ATP6Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathym.8969G>A8969S-N2018.04.18
54CodingMT-ATP6NARP / Leigh Disease / MILS / otherm.8993T>C8993L-P2018.04.18
55CodingMT-ATP6NARP / Leigh Disease / MILS / otherm.8993T>G8993L-R2018.04.18
56CodingMT-ATP6Ataxia syndromesm.9035T>C9035L-P2018.04.18
57CodingMT-ATP6MIDD, renal insufficiencym.9155A>G9155Q-R2019.12.09
58CodingMT-ATP6FBSN / Leigh Diseasem.9176T>C9176L-P2018.04.18
59CodingMT-ATP6Leigh Disease / Spastic Paraplegiam.9176T>G9176L-R2018.04.18
60CodingMT-ATP6Leigh Disease / Ataxia syndromes / NARP-like diseasem.9185T>C9185L-P2018.04.18
61CodingMT-ATP6Encephalopathy / Seizures / Lacticacidemiam.9205_9206delTA9205Ter-M2018.04.18
62tRNAMT-TGPEMm.10010T>C10010tRNA Gly2018.04.18
63CodingMT-ND3Leigh Disease / MELASm.10158T>C10158S-P2018.04.18
64CodingMT-ND3Leigh Disease / Leigh-like Disease / ESOCm.10191T>C10191S-P2018.04.18
65CodingMT-ND3Leigh Disease / Dystonia / Stroke / LDYTm.10197G>A10197A-T2018.04.18
66CodingMT-ND4LLHONm.10663T>C10663V-A2018.04.18
67CodingMT-ND4Leigh Diseasem.11777C>A11777R-S2018.04.18
68CodingMT-ND4LHON / Progressive Dystoniam.11778G>A11778R-H2018.04.18
69tRNAMT-THMERRF-MELAS / Encephalopathym.12147G>A12147tRNA His2018.04.18
70tRNAMT-THMaternally inherited non-syndromic deafnessm.12201T>C12201tRNA His2020.09.17
71tRNAMT-TS2DMDF / RP+SNHLm.12258C>A12258tRNA Ser (AGY)2018.04.18
72tRNAMT-TL2CPEOm.12276G>A12276tRNA Leu (CUN)2018.04.18
73tRNAMT-TL2CPEO / EXIT+Ophthalmoplegiam.12294G>A12294tRNA Leu (CUN)2018.10.12
74tRNAMT-TL2CPEO / KSS / possible carotid atherosclerosis risk, trend toward myocardial infarction riskm.12315G>A12315tRNA Leu (CUN)2018.04.18
75tRNAMT-TL2CPEOm.12316G>A12316tRNA Leu (CUN)2018.04.18
76CodingMT-ND5Leigh Diseasem.12706T>C12706F-L2018.04.18
77CodingMT-ND5Optic neuropathy/ retinopathy/ LDm.13042G>A13042A-T2018.04.18
78CodingMT-ND5LHONm.13051G>A13051G-S2018.04.18
79CodingMT-ND5Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatiguem.13094T>C13094V-A2018.04.18
80CodingMT-ND5LHONm.13379A>C13379H-P2020.04.10
81CodingMT-ND5Leigh Disease / MELAS / LHON-MELAS Overlap Syndrome / negative association w Carotid Atherosclerosism.13513G>A13513D-N2018.04.18
82CodingMT-ND5Leigh Disease / MELAS / Ca2+ downregulationm.13514A>G13514D-G2018.04.18
83CodingMT-ND6LDYT / Leigh Disease / dystonia / carotid atherosclerosis riskm.14459G>A14459A-V2018.04.18
84CodingMT-ND6LHONm.14482C>A14482M-I2018.04.18
85CodingMT-ND6LHONm.14482C>G14482M-I2018.04.18
86CodingMT-ND6LHONm.14484T>C14484M-V2018.04.18
87CodingMT-ND6Dystonia / Leigh Disease / ataxia / ptosis / epilepsym.14487T>C14487M-V2018.04.18
88CodingMT-ND6LHONm.14495A>G14495L-S2018.04.18
89CodingMT-ND6LHONm.14568C>T14568G-S2018.04.18
90tRNAMT-TEReversible COX deficiency myopathym.14674T>C14674tRNA Glu2018.04.18
91tRNAMT-TEMM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegiam.14709T>C14709tRNA Glu2018.04.18
92tRNAMT-TEEncephalomyopathy + Retinopathym.14710G>A14710tRNA Glu2018.04.18
93CodingMT-CYBEXIT / Septo-Optic Dysplasiam.14849T>C14849S-P2018.04.18
94CodingMT-CYBMultisystem Disorder, EXITm.15579A>G15579Y-C2018.04.18
95tRNAMT-TPMM / PEOm.15990C>T15990tRNA Pro2020.10.23

The data are derived from 51673 GenBank sequences with size greater than 15.4kbp and 74660 Control Region sequences with size 0.4-1.6k bp. 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 https://www.mitomap.org/MITOMAP/GBFreqInfo

Topic revision: r1 - 04 Dec 2020, UnknownUser

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