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Species: Homo sapiens
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Duplications | 5' breakpoint | 3' breakpoint | Duplicated region | Duplication length - bp | Partially duplicated molecule length - bp | Duplicates replication origin | Location of the duplicated region | Truncated or fused proteins | Single mtDNA deletions | Multiple mtDNA deletions | Healthy tissues | Parkinson Disease | Inclusion Body Myositis | Tumour | Other clinical features | References |
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Duplications | 5' breakpoint | 3' breakpoint | Duplicated region | Duplication length - bp | Partially duplicated molecule length - bp | Duplicates replication origin | Location of the duplicated region | Truncated or fused proteins | Single mtDNA deletions | Multiple mtDNA deletions | Healthy tissues | Parkinson Disease | Inclusion Body Myositis | Tumour | Other clinical features | References |
563:360 | 563 | 360 | 360:563 | 204 | 16773 | OH | Duplicating part of minor and (...) | Control Region | Muscular exercise intolerance;(...) | [2; 31; 32] | ||||||
469:314 | 469 | 314 | 314:469 | 156 | 16725 | OH | Duplicating part of minor and (...) | Control Region | PEO | Control | [8] | |||||
493:301 | 493 | 301 | 301:493 | 193 | 16762 | OH | Duplicating part of minor and (...) | Control Region | Mitochondrial myopathy | Aged tissues; control | [10; 11; 18] | |||||
498:306 | 498 | 306 | 306:498 | 193 | 16762 | OH | Duplicating part of minor and (...) | Control Region | PEO | Control | [8] | |||||
567:301 | 567 | 301 | 301:567 | 267 | 16836 | OH | Duplicating part of minor and (...) | Control Region | Aged tissues | [18] | ||||||
573:309 | 573 | 309 | 309:573 | 265 | 16834 | OH | Duplicating part of minor and (...) | Control Region | Mitochondrial myopathy | Control | Sun-exposed skin | [6; 10; 11; 30; 31; 32] | ||||
573:316 | 573 | 316 | 316:573 | 258 | 16827 | OH | Duplicating part of minor and (...) | Control Region | PEO | Control | [8] | |||||
965:315 | 965 | 315 | 315:965 | 651 | 17220 | OH | Duplicating part of minor and (...) | RNR1/Control Region | PEO | Control | Exercise intolerance; Sun-expo(...) | [8; 21; 31; 32] | ||||
2059:16071 | 2059 | 16071 | 16071:2059 | 2558 | 19127 | OH | Duplicating part of minor and (...) | RNR2/Control Region | Aged tissues | [1] | ||||||
3325:13452 | 3325 | 13452 | 13452:3325 | 6443 | 23012 | OH | Duplicating part of minor and (...) | ND5/ND1 | Diabetes mellitus | [13] | ||||||
3567:15548 | 3567 | 15548 | 15548:3567 | 4589 | 21158 | OH | Duplicating part of minor and (...) | ND1/CYTB | Late-onset myopathy | [22] | ||||||
3577:15547 | 3577 | 15547 | 15547:3577 | 4600 | 21169 | OH | Duplicating part of minor and (...) | ND1/CYTB | Late-onset progressive myopath(...) | [7; 28] | ||||||
4398:14882 | 4398 | 14882 | 14882:4398 | 6086 | 22655 | OH | Duplicating part of minor and (...) | TRNQ/CYTB | Diabetes mellitus | [23] | ||||||
5782:14302 | 5782 | 14302 | 14302:5782 | 8050 | 24619 | OL and OH | Duplicating part of minor and (...) | TRNC/ND6 | KSS | [16] | ||||||
5789:15450 | 5789 | 15450 | 15450:5789 | 6909 | 23478 | OL and OH | Duplicating part of minor and (...) | TRNC/CYTB | Mitochondrial encephalomyopath(...) | [20] | ||||||
5940:14289 | 5940 | 14289 | 14289:5940 | 8221 | 24790 | OL and OH | Duplicating part of minor and (...) | COX1/ND6 | KSS | [29] | ||||||
6000:14911 | 6000 | 14911 | 14911:6000 | 7659 | 24228 | OL and OH | Duplicating part of minor and (...) | COX1/CYTB | Mild mitochondrial encephalomy(...) | [4] | ||||||
6021:14848 | 6021 | 14848 | 14848:6021 | 7743 | 24312 | OL and OH | Duplicating part of minor and (...) | COX1/CYTB | PEO | [28] | ||||||
6125:15611 | 6125 | 15611 | 15611:6125 | 7084 | 23653 | OL and OH | Duplicating part of minor and (...) | COX1/CYTB | KSS | [29] | ||||||
6130:15056 | 6130 | 15056 | 15056:6130 | 7644 | 24213 | OL and OH | Duplicating part of minor and (...) | COX1/CYTB | KSS | Diabetes mellitus | [24; 14; 15] | |||||
6131:15056 | 6131 | 15056 | 15056:6131 | 7645 | 24214 | OL and OH | Duplicating part of minor and (...) | COX1/CYTB | KSS | [9] | ||||||
6332:14920 | 6332 | 14920 | 14920:6332 | 7982 | 24551 | OL and OH | Duplicating part of minor and (...) | COX1/CYTB | KSS | [29] | ||||||
7354:15913 | 7354 | 15913 | 15913:7354 | 8011 | 24580 | OL and OH | Duplicating part of minor and (...) | COX1/TRNT | Mitochondrial myopathy | [14] | ||||||
7357:15916 | 7357 | 15916 | 15916:7357 | 8011 | 24580 | OL and OH | Duplicating part of minor and (...) | COX1/TRNT | KSS | Diabetes mellitus | [24] | |||||
7360:14920 | 7360 | 14920 | 14920:7360 | 9010 | 25579 | OL and OH | Duplicating part of minor and (...) | COX1/TRNT | KSS | [9] | ||||||
7835:14331 | 7835 | 14331 | 14331:7835 | 10074 | 26643 | OL and OH | Duplicating part of minor and (...) | COX2/ND6 | KSS | Leigh disease | [5; 28] | |||||
7882:15696 | 7882 | 15696 | 15696:7882 | 8756 | 25325 | OL and OH | Duplicating part of minor and (...) | COX2/CYTB | KSS | [3; 22; 29] | ||||||
7983:15504 | 7983 | 15504 | 15504:7983 | 9049 | 25618 | OL and OH | Duplicating part of minor and (...) | COX2/CYTB | KSS | [27] | ||||||
8424:11503 | 8424 | 11503 | 11503:8424 | 13491 | 30060 | OL and OH | Duplicating part of minor and (...) | ATP8/ND4 | PEO | [17] | ||||||
8437:14068 | 8437 | 14068 | 14068:8437 | 10939 | 27508 | OL and OH | Duplicating part of minor and (...) | ATP8/ND5 | PS | [26] | ||||||
8476:14812 | 8476 | 14812 | 14812:8476 | 10234 | 26803 | OL and OH | Duplicating part of minor and (...) | ATP8/CYTB | KSS | [25] | ||||||
8482:13460 | 8482 | 13460 | 13460:8482 | 11592 | 28161 | OL and OH | Duplicating part of minor and (...) | ATP8/ND5 | KSS; PEO | [5; 24; 25; 27] | ||||||
8647:16086 | 8647 | 16086 | 16086:8647 | 9131 | 25700 | OL and OH | Duplicating part of minor and (...) | ATP6/Control Region | PEO | Leukoencephalopathy; Ataxia; D(...) | [27] | |||||
9497:13735 | 9497 | 13735 | 13735:9497 | 12332 | 28901 | OL and OH | Duplicating part of minor and (...) | COX3/ND5 | KSS | [25] | ||||||
11036:15439 | 11036 | 15439 | 15439:11036 | 12167 | 28736 | OL and OH | Duplicating part of minor and (...) | ND4/CYTB | PS | [27] | ||||||
12122:15844 | 12122 | 15844 | 15844:12122 | 12848 | 29417 | OL and OH | Duplicating part of minor and (...) | ND4/CYTB | KSS | [12] | ||||||
12205:15355 | 12205 | 15355 | 15355:12205 | 13420 | 29989 | OL and OH | Duplicating part of minor and (...) | TRNH/CYTB | PS | [19] | ||||||
8718:15239 | 8718 | 15239 | 15239:8718 | 10049 | 26618 | OL and OH | Duplicating part of minor and (...) | ATP6/CYTB | Proximal tubulopathy; Diabetes(...) | [33] | ||||||
498:308 | 498 | 308 | 308:498 | 191 | 16760 | OH | Duplicating part of minor and (...) | Control Region | Sun-exposed skin | [31; 32] | ||||||
463:314 | 463 | 314 | 314:463 | 150 | 16719 | OH | Duplicating part of minor and (...) | Control Region | Sun-exposed skin | [31] | ||||||
307:16189 | 307 | 16189 | 16189:307 | 688 | 17257 | None | Duplicating part of major arc | Control Region | Sun-exposed skin | [31] | ||||||
498:16189 | 498 | 16189 | 16189:498 | 879 | 17448 | OH | Duplicating part of minor and (...) | Control Region | Sun-exposed skin | [31] | ||||||
459:16184 | 459 | 16184 | 16184:459 | 845 | 17414 | OH | Duplicating part of minor and (...) | Control Region | Sun-exposed skin | [31] | ||||||
571:16263 | 571 | 16263 | 16263:571 | 878 | 17447 | OH | Duplicating part of minor and (...) | Control Region | Sun-exposed skin | [31] |