MITOMAP: Reported Multiple mtDNA Deletions Within Individuals

Last Edited: May 25, 2012

Deletion Junction (nt:nt) Deletion Size(bp) Repeat Type Repeat LocationSorted ascending Patient ID References
547:4443 -3895 D, 13/13 536-548/4430-4442 AD-PEO 1-3 1
5786:13923 -8136 D, 4/4 5785-5788/13918-13921 22 1
5787:13920 -8132 D, 4/4 5785-5788/13918-13921 22 1
6330-6341:13994-14005 -7663 D, 16/17 6325-6341/13989-14004 Subject 01 Fiber 06 1
6330-6340:13994-14005 -7663 D, 16/17 6325-6341/13989-14004 Subject 06 Fiber 19 1
6330-6341:13994-14005 -7663 D, 16/17 6325-6341/13989-14004 Subject 09 Fiber 30 1
6330-6341:13994-14005 -7663 D, 16/17 6325-6341/13989-14004 Subject 10 Fiber 36, 37 1
6522-6527:15050-15055 -8527 D, 8/9 6523-6531/15050-15058 Subject 10 Fiber 34 1
6936-6940:15447-15451 -8510 D, 7/8 6933-6940/15444-15450 Subject 10 Fiber 33 1
6936-6940:15447-15451 -8510 D, 4/4 6937-6940/15447-15450 Subject 10 Fiber 38, 39 1
7175-7185:14110-14120 -6934 D, 10/10 7176-7185/14110-14119 Subject 06 Fiber 16 1
7181:14565 -7383 I, 4/4 7182-7185/14565-14568 Subject 06 Fiber 13 1
7404-7407:12393-12396 -4988 D, 10/11 7397-7407/12385-12395 Subject 06 Fiber 23 1
7407-7414:14561-14568 -7153 D, 12/13 7402-7414/14555-14567 Subject 09 Fiber 28 1
7469:16071 -8601 D, 4/4 7469-7472/16071-16074 26 1
7474-7479:11435-11440 -3960 D, 5/5 7475-7479/11435-11439 Subject 01 Fiber 01 1
7619:15032 -7412 D, 4,4 7620-7623/15032-15035 III-1 1
7775:13532 -5756 D, 7/7 7769-7775/13525-13531 Proband-Aged 1
7794:16072 -8277 D, 6/6 7794-7799/16072-16077 3-II-5 1
7818:16071 -8252 D, 6/6 7819-7824/16071-16076 26 1
7819:16070 -8250 D, 6/6 7819-7824/16071-16076 26 1
7817:16071 -8253 D, 6/6 7819-7824/16071-16076 27 1
7819:16071 -8251 D, 6/6 7820-7825/16071-16076 27 1
7845:15761 -7915 D, 4/4 7841-7845/15751-15753 III-1 1
7869:16075 -8205 D, 7/7 7872-7878/16072-16078 26 1
7899:15642 -7742 D, 4/4 7905-7908/15646-15649 1-III-8 1
7920:16078 -8157 D, 4/4 7915-7918/16068-16071 26 1
7919:16070 -8150 D, 4/4 7915-7918/16069-16072 27 1
7914:16070 -8155 D, 4/4 7915-7918/16069-16072 53 1
7922:16074 -8151 D, 4/4 7919-7922/16065-16068 26 1
7920:16071 -8150 D, 4/4 7919-7922/16065-16068 2-III-3 1
7931:15761 -7829 D, 7/8 7924-7931/15760-15767 III-1 1
7959:13787 -5827 D, 6/6 7954-7959/13781-13786 Proband-Aged 1
7967:11312 -3344 D, 5/5 7968-7972/11312-11316 Sib1, Sib2 1
7989:16071 -8081 D, 5/5 7986-7990/16065-16069 26 1
7991:16070 -8078 D, 5/5 7986-7990/16065-16069 26 1
7989:16071 -8081 D, 5/5 7986-8990/16065-16069 27 1
7990:16068 -8077 D, 5/5 7986-7990/16065-16069 27 1
7992:15730 -7737 D, 7/7 7986-7992/15723-15729 Proband-Aged 1
8029:16071 -8041 D, 6/7 8030-8036/16071-16076 27 1
8030:16071 -8040 D, 6/7 8030-8036/16071-16076 27 1
8030:16070 -8039 D, 6/7 8030-8036/16071-16076 52 1
8030:16075 -8044 D, 5/5 8030-8034/16071-16075 Proband-Aged 1
8034:16076 -8041 D, 5/5 8030-8034/16071-16075 Proband-Aged 1
8213:16070 -7856 D, 6/6 8207-8212/16071-16076 Proband-Aged 1
8254:16070 -7815 D, 3/3 8252-8254/16071-16073 53 1
8439:16075 -7635 D, 7/7 8433-8439/16068-16074 Proband-Aged 1
8466-8475:14372-14381 -5905 D, 9/9 8467-8475/14372-14380 Subject 09 Fiber 26 1
8469:13447 -4977 D, 13/13 8470-8482/13447-13459 AD-PEO 1-3, AR-PEO 1-3 1
8476:14812 -6335 D, 7/7 8470-8476/14805-14811 Proband-Aged 1
8482:13460 -4977 D, 13/13 8470-8482/13447-13459 Proband-Aged 1
8555-8561:13979-13985 -5429 D, 6/6 8556-8561/13979-13984 Subject 09 Fiber 32 1
8568-8576:13954-13962 -5385 D, 8/8 8569-8576/13954-13961 Subject 02 Fiber 12 1
8580:15731 -7150 D, 7/7 8581-8587/15731-15737 Proband-UV 1
8631:13513 -4881 D, 7/7 8625-8631/13506-13512 Proband-Chronic Fatigue 1
8636:16073 -7436 D, 12/12 8637-8648/16073-16084 52 1
8648:16085 -7436 D, 12/12 8637-8648/16073-16084 Proband-Aged 1
8727:13698 -4970 D, 6/6 8712-8717/13688-13693 Sib1, Sib2, Mother 1
8774:13990 -5215 D, 6/6 8772-8777/14001-14006 Sib1, Sib2, Mother 1
8931:13766 -4834 D, 6/6 8931-8936/13768-13773 Sib1, Sib2, Mother 1
9079:15312 -6232 D, 5/5 9075-9079/15307-15311 2-IV-5 1
9193:15322 -6128 D, 6/7 9189-9194/15319-15325 3-III-9 1
9242-9246:13054-13058 -3811 D, 4/4 9243-9246/13054-13057 Subject 06 Fiber 14 1
9251-9258:14422-14429 -5170 D, 7/7 9252-9258/14422-14428 Subject 09 Fiber 25 1
9281:13810 -4528 D, 8/8 9274-9281/13801-13808 12 1
9346-9351:13149-13154 -3802 D, 7/8 9344-9351/13146-13153 Subject 06 Fiber 22 1
9440:14083 -4642 D, 10/10 9431-9440/14072-14081 12 1
9444:13964 -4519 D, 8/8 9437-9444/13955-13962 12 1
9497:13735 -4237 D, 12/12 9486-9497/13722-13733 12 1
9532:14135 -4602 D, 7/7 9526-9532/14127-14133 12 1
9591:13052 -3460 D, 6/6 9546-9591/13046-13051 Proband-MD 1
9574:13951 -4376 D, 4/4 9571-9574/13946-13949 12 1
9587:13953 -4366 D, 9/9 9579-9587/13943-13951 12 1
9578-9587:13944-13953 -4365 D, 9/9 9579-9587/13944-13952 Subject 06 Fiber 24 1
9600:14138 -4537 D, 5/5 9596-9600/14132-14136 12 1
9609:14147 -4537 D, 5/5 9606-9610/14141-14145 12 1
9766-9773:13749-13756 -3982 D, 7/7 9767-9773/13749-13755 Subject 06 Fiber 17 1
9844:16064 -6219 D, 9/10 9833-9844/16061-16070 II-5 1
9966:15801 -5834 D, 4/5 9952-9956/15798-15802 II-5 1
10758:14138 -3379 D, 8/8 10151-10758/14128-14136 12 1
10493-10497:14756-14760 -4262 D, 4/4 10494-10497/14756-14759 Subject 10 Fiber 35 1
10925:14152 -3226 D, 5/5 10921-10925/14146-14150 12 1
10934-10939:15525-15530 -4590 D, 5/5 10935-10939/15525-15529 Subject 06 Fiber 20 1
10936-10940:15542-15546 -4605 D, 4/4 10937-10940/15542-15545 Subject 11 Fiber 45 1
10977-10984:15536-15543 -4557 D, 7/7 10978-10984/15536-15542 Subject 11 Fiber 41 1
10977-10984:15536-15543 -4558 D, 7/7 10978-10984/15536-15542 Subject 11 Fiber 44 1
11056-11065:15851-15860 -4794 D, 9/9 11057-11065/15851-15859 Subject 11 Fiber 43 1
12079-12084:15849-15854 -3769 D, 5/5 12080-12084/15849-15853 Subject 09 Fiber 27 1
13761:14252 -490 D, 8/8 13754-13761/14243-14250 12 1
16157-16164:16312-16319 -154 D, 7/7 16158-16164/16312-16318 Subject 09 Fiber 29 1
8387:16071 -7683 NR . Proband-Chronic Fatigue 1
8612:16072 -7459 NR . Proband-Chronic Fatigue 1
8316:15802 -7485 NR . Proband-UV 1
8344:15633 -7288 NR . Proband-UV 1
8553:15585 -7031 NR . Proband-UV 1
11514:13810 -2295 NR . Subject 01 Fiber 02 1
11739:15572 -3832 NR . Subject 01 Fiber 03 1
6862:13061 -6198 NR . Subject 01 Fiber 04 1
5787:13924 -8136 NR . Subject 01 Fiber 05 1
5787:15576 -9788 NR . Subject 01 Fiber 07 1
9799:15557 -5757 NR . Subject 02 Fiber 08 1
9921:16071 -6149 NR . Subject 02 Fiber 09 1
6429:14101 -7671 NR . Subject 02 Fiber 10 1
9665:15183 -5517 NR . Subject 02 Fiber 11 1
7723:14110 -6386 NR . Subject 06 Fiber 15 1
4881:16067 -11185 NR . Subject 06 Fiber 18 1
7402:13677 -6274 NR . Subject 06 Fiber 21 1
7850:13474 -5623 NR . Subject 09 Fiber 31 1
3263:16071 -12807 NR . Subject 10 Fiber 40 1
7857:12283 -4425 NR . Subject 11 Fiber 42 1
5789:16075 -10285 NR . Subject 11 Fiber 46 1
5785:16072 -10286 NR . Subject 11 Fiber 47 1
7098:16072 -8973 NR . Subject 11 Fiber 48 1
6341:14005 -7663 D, 11/11 Not Reported Proband-MNGIE 1
11480:16071 -4591 D, 3/4 Not Reported Proband-MNGIE 1

Note:

Only deletions with sequenced breakpoints are included. Reported deletion junctions may be approximate due to the presence identical repeat sequences at the break points. Alternate junctions may be reported in the cited literature due to the inherent ambiguities of the direct repeats. Other reports of multiple deletions mapped within an individual have been published without specific sequence data for the deletion breakpoints.

  • D = direct repeat;
  • I = indirect repeat, homology as specified;
  • Patient ID # = identification number of specific individual examined in cited work.
Topic revision: r186 - 18 Jul 2019, ShipingZhang

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