MITOMAP: Unpublished mtDNA Variants {ARCHIVED, no longer updated}

To submit unpublished mtDNA variant data to an online database, please contact lishen@chla.usc.edu at MSeqDR.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

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Deletions

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Complex

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Others

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Topic revision: r3 - 04 Mar 2019, MarieLott

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