MITOMAP: Unpublished mtDNA Variants {ARCHIVED, no longer updated}

To submit unpublished mtDNA variant data to an online database, please contact lishen@chla.usc.edu at MSeqDR. We no longer accept direct variant submissions here at Mitomap.

To submit sequences to GenBank, use the BankIt tool. (We pull sequences from GenBank 3-4 times a year to add to Mitomap's database.)

If you would like to submit published data and articles to be included in mitomap, please send the citation & a pdf file to mitomap@email.chop.edu.

Also see the submission index


Point Mutations - includes benign & 'potentially pathogenic' variants

Details and Citation Position Nucleotide Change Amino Acid Change Locus / Gene Patient Group / Phenotype Ethnographic Info
20010424006     Frameshift MT-ND4 Sporadic Parathyroid Adenoma -
20010828001     Frameshift MT-ND1 Sporadic Parathyroid Adenoma -
20100822001 73 A-G non-coding Control Region Oral Cancer Indian- Bengali
20010303003 147 C-T noncod D-Loop Breast Cancer Caucasian
20010424001 253 C-A noncod D-Loop Sporadic Parathyroid Adenoma -
20010828002 285 C-T noncod D-Loop Sporadic Parathyroid Adenoma -
20040720017 498 C-del non-coding Control Region Breast Cancer Asian
20110302001 571 C-A non-coding Control Region complex I deficiency  
20081112001 930 G-C noncod MT-RNR1 Normal Yakut
20010828003 1007 G-A noncod MT-RNR1 Sporadic Parathyroid Adenoma -
20010828004 1700 T-C noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20041220011 1700 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20010301006 1703 C-T noncod MT-RNR2 Breast Cancer Caucasian
20041220013 1811 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Gujarati
20010828005 2218 C-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20041220010 2232 A-AAA rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220014 2361 G-A rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220016 2396 C-T rRNA MT-RNR2 Oral Cancer Asian Indian
20041220015 3116 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20010828006 3160 A-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20041220012 3197 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20041220017 3220 A-G rRNA MT-RNR2 Oral Cancer Asian Indian
20030912001 3242 G-A tRNA MT-TL1 Myelodysplastic Syndrome (MDS) Caucasian
20011206001 3351 C-T syn MT-ND1 Unknown cardio-facio-cutaneous syndrome Caucasian
20010828007 3397 A-G M-V MT-ND1 Sporadic Parathyroid Adenoma -
20010828008 3591 G-A P-L MT-ND1 Sporadic Parathyroid Adenoma -
20010301007 3921 C-A syn MT-ND1 Breast Cancer Caucasian
20040912001 3993 A-G syn MT-ND1 Normal Arabs
20010303006 4021 A-G T-A MT-ND1 Breast Cancer Caucasian
20010424002 4172 T-C L-P MT-ND1 Sporadic Parathyroid Adenoma -
20010828009 4188 A-G syn MT-ND1 Sporadic Parathyroid Adenoma -
20010828010 4216 T-C Y-H MT-ND1 Sporadic Parathyroid Adenoma -
20070612001 4363 T-C tRNA MT-TQ Normal Saudi Arabs
20081202001 4395 A-G noncod MT-TQ cardiomyopathy Afrique
20010828011 4418 T-C noncod MT-TM Sporadic Parathyroid Adenoma -
20040720010 4562 A-G syn MT-ND2 Breast Cancer Asian
20010828012 4640 C-A I-M MT-ND2 Sporadic Parathyroid Adenoma -
20010301003 4917 A-G N-D MT-ND2 - Caucasian
20040720014 4973 T-C syn MT-ND2 Breast Cancer Caucasian
20010424003 5026 A-G H-R MT-ND2 Sporadic Parathyroid Adenoma -
20010301002 5198 A-G syn MT-ND2 - Caucasian
20040720015 5285 A-G syn MT-ND2 Breast Cancer Caucasian
20010301004 5471 G-A syn MT-ND2 - Caucasian
20010828013 6026 G-A syn MT-CO1 Sporadic Parathyroid Adenoma -
20120312001 6498       Hearing loss and optic atrophy Caucasian/Africain
20010828014 6570 G-T A-S MT-CO1 Sporadic Parathyroid Adenoma -
20010828015 6656 C-T syn MT-CO1 Sporadic Parathyroid Adenoma -
20121022001 6996       control/normal/healthy Caucasian/Middle European
20000402001 7058 T-C syn MT-CO1 Leigh Syndrome Caucasian
20010828016 7220 T-C syn MT-CO1 Sporadic Parathyroid Adenoma -
20110722001 7455 A-G tRNA MT-TS1 HEARING IMPAIRED ASIAN
20010828017 7963 A-G syn MT-CO2 Sporadic Parathyroid Adenoma -
20010828018 8602 T-C F-L MT-ATP6 Sporadic Parathyroid Adenoma -
20010828019 8812 A-G T-A MT-ATP6 Sporadic Parathyroid Adenoma -
20010828020 8953 A-G I-V MT-ATP6 Sporadic Parathyroid Adenoma -
20010828021 8987 A-G M-V MT-ATP6 Sporadic Parathyroid Adenoma -
20010828022 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20010828024 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20010828025 9656 T-C syn MT-CO3 Sporadic Parathyroid Adenoma -
20010828026 10325 G-A syn MT-ND3 Sporadic Parathyroid Adenoma -
20010424004 10522 G-A G-E MT-ND4L Sporadic Parathyroid Adenoma -
20081022001 10680 G-A A-T MT-ND4L LHON Han Chinese
20010303007 10707 T-G S-A MT-ND4L Breast Cancer Caucasian
20010828027 10754 A-C syn MT-ND4L Sporadic Parathyroid Adenoma -
20010828028 10775 A-G V-I MT-ND4 Sporadic Parathyroid Adenoma -
20010301001 11087 T-C F-L MT-ND4 - Caucasian
20060122001 11260 T-A syn MT-ND4 Mitochondrial Myopathy Caucasian
20010828029 11617 T-C syn MT-ND4 Sporadic Parathyroid Adenoma -
20010303008 11696 G-A V-I MT-ND4 Breast Cancer Caucasian
20010303004 11723 A-G T-A MT-ND4 Breast Cancer Caucasian
20010303001 11734 A-G syn MT-ND4 Breast Cancer Caucasian
20040720011 11878 T-C syn MT-ND4 Breast Cancer Asian
20010301008 12237 C-T noncod MT-TS2 Breast Cancer Caucasian
20010303002 12251 A-G noncod MT-TS2 Breast Cancer Caucasian
20010424005 12372 G-A syn MT-ND5 Sporadic Parathyroid Adenoma -
20040720012 12438 T-C syn MT-ND5 Breast Cancer Asian
20100212001 12588 C-T syn MT-ND5 sensorineural hearing loss Caucasian
20040720013 12630 G-A syn MT-ND5 Breast Cancer Asian
20010822001 12813 C-T syn MT-ND5 Myopathy, Tremor Caucasian
20010828030 12879 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828031 12954 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010927001 13239 C-T syn MT-ND5 Mental Retardation Italian
20010828032 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828033 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828034 13422 A-G syn MT-ND5 Sporadic Parathyroid Adenoma -
20041212001 13539 A-G syn MT-ND5 LHON Arabs
20010424007 13577 T-C I-T MT-ND5 Sporadic Parathyroid Adenoma -
20010828035 13708 G-A A-T MT-ND5 Sporadic Parathyroid Adenoma -
20010828036 13743 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828037 14070 A-G syn MT-ND5 Sporadic Parathyroid Adenoma -
20040720016 14207 G-A T-I MT-ND6 Breast Cancer Caucasian
20010828038 14364 G-A syn MT-ND6 Sporadic Parathyroid Adenoma -
20010424008 14386 T-C syn MT-ND6 Sporadic Parathyroid Adenoma -
20111212001 14705 G-C tRNA MT-TE Diabetes, Myopathy,Hearing impairment  
20010303005 14783 T-C L-I MT-CYB Breast Cancer Caucasian
20011206002 15016 C-T syn MT-CYB Myopathy (unknown) Caucasian
20010828039 15148 G-A syn MT-CYB Sporadic Parathyroid Adenoma -
20010301005 15257 G-A D-N MT-CYB Breast Cancer Caucasian
20140422001 15530 T-del   MT-CYB Breast cancer Senegalese
20081212001 16292 C-T noncod D-Loop normal Veddah

Insertions

Details and Citation Pre-positionSorted ascending Insert Locus / Gene Patient Group / Phenotype Ethnographic Info
20030528021 1 G Control Region Oral Cancer Asian Indian- Marathi
20030528067 54 G Control Region Oral Cancer Asian Indian- Muslim
20120907004 56 G     European
20101209001 60 T Control Region Lung Cancer Caucasian
20030528051 71 G Control Region Oral Cancer Asian Indian- Marathi
20030528125 145 A Control Region Oral Cancer Asian Indian- Gujarati
20030528158 151 A Control Region Oral Cancer Asian Indian
20030528032 177 T Control Region Oral Cancer Asian Indian- Marathi
20030527036 179 T Control Region Oral Cancer Asian Indian- Bengali
20030527041 250 T Control Region Oral Cancer Asian Indian- Bengali
20060605006 292 AT Control Region Normal Indigenous group-Temuan
20090714001 302 C D-Loop Aminoglycoside-induced hearing loss Caucasian
20101227004 311 C Control Region Oral cancer Asian-Bengali
20060605008 356 C Control Region Normal Indigenous group-Temuan
20050106006 455 T Control Region Normal Caucasian
20130520001 455 455.1T Control Region   S\xE3o Paulo
20130520004 463 463.1C Control Region    
20130520005 463 463.1C Control Region    
20130520006 463 463.2C Control Region    
20090714002 513 CACA D-Loop Aminoglycoside-induced hearing loss Caucasian
20090714003 513 CA D-Loop Aminoglycoside-induced hearing loss Caucasian
20091228002 513 CA D-Loop NSHL Caucasian
20091228003 513 CA D-Loop NSHL Caucasian
20091228004 513 CA D-Loop NSHL Caucasian
20050331001 514 ACA Control Region Leigh Syndrome Russian
20091031001 524 AC D-Loop Normal Malay
20060831001 525 AC Control Region - -
20090714004 567 CCC D-Loop Aminoglycoside-induced hearing loss Caucasian
20091031002 573 C D-Loop Normal Kelantan Malays
20110421001 792 T MT-RNR1   Hispanic Father, Caucasian Mother
20110302020 1659 TT MT-TV complex I deficiency, hepatopathy, hypertrophic cardiomyopathy, gastrointestinal bleeding, muscular hypotonia  
20041220010 2232 AA MT-RNR2 Oral Cancer Asian Indian-Marathi
20140729005 2236 A MT-RNR1 CAD+T2DM Asian Indian
20140729008 3159 T MT-RNR2 CAD+T2DM Asian Indian
20010828001 3566 C MT-ND1 Sporadic Parathyroid Adenoma -
20140630011 3571 C MT-ND1 Glioma  
20040209029 10800 T MT-ND4 Oral Cancer Asian Indian
20040209019 10815 A MT-ND4 Oral Cancer MARATHI
20040209008 10816 A MT-ND4 Oral Cancer MARATHI
20040209013 10817 T MT-ND4 Oral Cancer MARATHI
20040209027 10817 AT MT-ND4 Oral Cancer SINDHI
20040209009 10824 GTA MT-ND4 Oral Cancer MARATHI
20040209020 11274 G MT-ND4 Oral Cancer MARATHI
20040209010 11711 G MT-ND4 Oral Cancer MARATHI
20040209052 11820 T MT-ND4 Normal MARATHI
20040209053 11826 G MT-ND4 Normal MARATHI
20140630012 11872 C MT-ND4 Glioma  
20040209043 11938 TC MT-ND4 Oral Cancer MARATHI
20140422007 15588 TA MT-CYB Breast cancer Senegalese
20140422029 15664 A MT-CYB Breast cancer Senegalese
20140731014 15864 A MT-CYB CAD+T2DM Asian Indian
20100908007 16190 C Control Region Oral cancer Asian-Bengali
20060605003 16192 T Control Region Normal Indigenous group-Bidayuh
20140731016 16197   Control Region CAD+T2DM Asian Indian
20130520007 16285 16285.1A Control Region    
20030528065 16496 G Control Region Oral Cancer Asian Indian- Muslim
20030528066 16564 A Control Region Oral Cancer Asian Indian- Muslim

Deletions

Details and Citation Position Length Locus / Gene Patient Group / Phenotype Ethnographic Info
20140731008     MT-ND5 CAD+T2DM Asian Indian
20030528111 25 1 Control Region Oral Cancer Asian Indian- Marathi
20030528084 36 1 Control Region Oral Cancer Asian Indian- Marathi
20140724001 56 1 Control Region CAD+T2DM Asian Indian
20030528112 60 1 Control Region Oral Cancer Asian Indian- Marathi
20140630009 71 1 Control Region Glioma  
20030528068 72 1 Control Region Oral Cancer Asian Indian- Muslim
20030528113 105 1 Control Region Oral Cancer Asian Indian- Marathi
20030528052 114 1 Control Region Oral Cancer Asian Indian- Marathi
20030528140 125 1 Control Region Oral Cancer Asian Indian
20030527004 131 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528114 132 1 Control Region Oral Cancer Asian Indian- Marathi
20030528115 133 1 Control Region Oral Cancer Asian Indian- Marathi
20030527023 135 1 Control Region Oral Cancer Asian Indian
20030528053 139 1 Control Region Oral Cancer Asian Indian- Marathi
20030528141 140 1 Control Region Oral Cancer Asian Indian
20030527024 142 1 Control Region Oral Cancer Asian Indian
20030529027 143 1 Control Region Oral Cancer Asian Indian
20030528116 145 1 Control Region Oral Cancer Asian Indian- Marathi
20030528153 146 1 Control Region Oral Cancer Asian Indian
20030528142 151 1 Control Region Oral Cancer Asian Indian
20030529002 152 1 Control Region Oral Cancer Asian Indian- Bihari
20140513002 152 1pb Control Region Breast cancer Senegalese
20030529028 155 1 Control Region Oral Cancer Asian Indian
20030528143 156 1 Control Region Oral Cancer Asian Indian
20030528144 157 1 Control Region Oral Cancer Asian Indian
20030529003 159 1 Control Region Oral Cancer Asian Indian
20030529021 160 1 Control Region Oral Cancer Asian Indian- Marathi
20030529005 165 1 Control Region Oral Cancer Asian Indian- Bihari
20030529031 165 1 Control Region Oral Cancer Asian Indian
20030529006 166 1 Control Region Oral Cancer Asian Indian- Bihari
20030528145 167 1 Control Region Oral Cancer Asian Indian
20030528155 168 1 Control Region Oral Cancer Asian Indian
20030528146 176 1 Control Region Oral Cancer Asian Indian
20030528147 177 1 Control Region Oral Cancer Asian Indian
20030529022 178 1 Control Region Oral Cancer Asian Indian- Marathi
20030527026 181 1 Control Region Oral Cancer Asian Indian
20030527009 216 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528055 217 1 Control Region Oral Cancer Asian Indian- Marathi
20030528011 294 1 Control Region Oral Cancer Asian Indian- Bengali
20040720017 494 1 Control Region Breast Cancer Asian
20111018001 498 1 Control Region normal Mestizo / Colombian
20091031003 513 1 D-Loop Normal Kelantan Malays
20091031004 514 1 D-Loop Normal Kelantan Malays
20050330001 515 2 Control Region Leigh Syndrome Russian
20030415001 516 2 Control Region Deafness Asian
20101227003 523 1 Control Region Oral cancer Asian-Bengali
20071219003 1139 1 MT-RNR1 Normal Caucasian
20140630010 2949 5 MT-RNR2 Glioma  
20140214012 7402 1 MT-CO1 isolated complex IV deficiency Caucasian
20071219005 7466 1 MT-TS1 Normal Caucasian
20140214010 9203 2 MT-ATP5 hypotonia, deafness and pyramidal signs  
20140630003 9477 1 MT-CO3 Temporal lobe epilepsy with hippocampal sclerosis  
20140214024 10224 2380 MT-ND3 and following Kearns-Sayre syndrome Caucasian
20010424006 11038 1 MT-ND4 Sporadic Parathyroid Adenoma -
20040209034 11797 1 MT-ND4 Oral Cancer MARATHI
20140214023 12113 2309   myopathy Caucasian
20140630004 14812 1 MT-CYB Temporal lobe epilepsy with hippocampal sclerosis  
20140422001 15530 1pb MT-CYB Breast cancer Senegalese
20140422003 15568 1pb MT-CYB Breast cancer Senegalese
20140422006 15585 1pb MT-CYB Breast cancer Senegalese
20140422009 15592 1pb MT-CYB Breast cancer Senegalese
19990316054 15944 1 MT-TT - -
20030528040 16051 1 Control Region Oral Cancer Asian Indian- Marathi
20030528012 16053 1 Control Region Oral Cancer Asian Indian- Marathi
20030527031 16054 1 Control Region Oral Cancer Asian Indian- Bengali
20030528072 16054 1 Control Region Oral Cancer Asian Indian- Marathi
20030528089 16059 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528042 16110 1 Control Region Oral Cancer Asian Indian- Marathi
20090928001 16166 1 D-Loop Normal Malay
20030528050 16366 1 Control Region Oral Cancer Asian Indian- Marathi
20100908004 16391 1 Control Region Oral cancer Indian- Bengali
20030528093 16419 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528094 16420 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528095 16437 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528096 16451 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528097 16460 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528098 16465 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528099 16475 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528100 16485 1 Control Region Oral Cancer Asian Indian- Gujarati
20030528101 16494 1 Control Region Oral Cancer Asian Indian- Gujarati

Complex

Details and Citation Type Locus / Gene Patient Group / Phenotype Ethnographic Info
20050119001 duplication Control Region Normal Iraqi

Others

Topic revision: r3 - 04 Mar 2019, MarieLott

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