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Species: Homo sapiens
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Deletions | 5' breakpoint | 3' breakpoint | Deletion length - bp | Deletion of replication origins | Location of the deleted region | Single mtDNA deletions | Multiple mtDNA deletions | Healthy tissues | Parkinson Disease | Inclusion Body Myositis | Tumour | Other clinical features | References |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Deletions | 5' breakpoint | 3' breakpoint | Deletion length - bp | Deletion of replication origins | Location of the deleted region | Single mtDNA deletions | Multiple mtDNA deletions | Healthy tissues | Parkinson Disease | Inclusion Body Myositis | Tumour | Other clinical features | References |
547:4443 | 547 | 4443 | 3895 | None | Inside the minor arc | KSS; PEO | ad/ar-PEO | Aged tissues; Skin (epithelial(...) | Non-melanoma skin cancer | PEO-like HIV patients; Chronic(...) | [14; 41; 138; 168-174; 265; 32(...) | ||
5787:13920 | 5787 | 13920 | 8132 | None | Inside the major arc | KSS; PEO | ad-PEO | [11; 279] | |||||
5787:13924 | 5787 | 13924 | 8136 | None | Inside the major arc | KSS; PEO | ad-PEO | Aged tissues | Hippocampal tissue of patients(...) | [9; 11; 279; 330] | |||
5834:10829 | 5834 | 10829 | 4994 | None | Inside the major arc | PEO | [322] | ||||||
6079:11305 | 6079 | 11305 | 5225 | None | Inside the major arc | PEO | Mitochondrial myopathy | [322] | |||||
6203:14258 | 6203 | 14258 | 8054 | None | Inside the major arc | PEO | [18] | ||||||
6215:10976 | 6215 | 10976 | 4760 | None | Inside the major arc | PEO | [10] | ||||||
6310:15611 | 6310 | 15611 | 9300 | None | Inside the major arc | PEO | [44] | ||||||
6320:11272 | 6320 | 11272 | 4951 | None | Inside the major arc | PEO | [44] | ||||||
6329:13994 | 6329 | 13994 | 7664 | None | Inside the major arc | KSS; PS; PEO | Aged tissues | Reye-like; MELAS; LS; Skeletal(...) | [9; 26; 32; 45; 119; 265; 326;(...) | ||||
6380:14096 | 6380 | 14096 | 7715 | None | Inside the major arc | PEO | [40] | ||||||
7115:10546 | 7115 | 10546 | 3430 | None | Inside the major arc | PEO | [301] | ||||||
7407:13620 | 7407 | 13620 | 6212 | None | Inside the major arc | PEO | [26] | ||||||
7448:13475 | 7448 | 13475 | 6026 | None | Inside the major arc | PEO | [44] | ||||||
7449:15926 | 7449 | 15926 | 8476 | None | Inside the major arc | KSS; PEO | [11; 15] | ||||||
7491:11004 | 7491 | 11004 | 3512 | None | Inside the major arc | KSS; PEO | Complex I deficiency | [11; 154; 265] | |||||
7547:13475 | 7547 | 13475 | 5927 | None | Inside the major arc | PEO | [296] | ||||||
7669:15437 | 7669 | 15437 | 7767 | None | Inside the major arc | KSS; PEO | Evolution from PS; Sideroblast(...) | [11; 155; 265] | |||||
7823:15389 | 7823 | 15389 | 7565 | None | Inside the major arc | PEO | [40; 265; 326] | ||||||
7846:9749 | 7846 | 9749 | 1902 | None | Inside the major arc | PEO; KSS | Myoblasts | [40; 160; 161] | |||||
7864:15408 | 7864 | 15408 | 7543 | None | Inside the major arc | PEO | Mitochondrial myopathy | [322] | |||||
7868:15545 | 7868 | 15545 | 7676 | None | Inside the major arc | PEO | Multiple sclerosis | [320] | |||||
7889:15435 | 7889 | 15435 | 7545 | None | Inside the major arc | PEO | [140] | ||||||
7982:15504 | 7982 | 15504 | 7521 | None | Inside the major arc | KSS; PEO | Mitochondrial myopathy | MELAS; Ptosis; Proximal limb w(...) | [15; 40; 42; 43; 265; 326; 330(...) | ||||
7989:15435 | 7989 | 15435 | 7445 | None | Inside the major arc | PEO | [140] | ||||||
8211:15340 | 8211 | 15340 | 7128 | None | Inside the major arc | PEO | [138] | ||||||
8380:13338 | 8380 | 13338 | 4957 | None | Inside the major arc | PEO | [26] | ||||||
8412:15664 | 8412 | 15664 | 7251 | None | Inside the major arc | PEO | Hippocampal tissue of patients(...) | [142; 330] | |||||
8424:11503 | 8424 | 11503 | 3078 | None | Inside the major arc | PEO | [304] | ||||||
8426:14058 | 8426 | 14058 | 5631 | None | Inside the major arc | PEO | Mitochondrial myopathy | [322] | |||||
8467:13444 | 8467 | 13444 | 4976 | None | Inside the major arc | PEO | [44] | ||||||
8468:13446 | 8468 | 13446 | 4977 | None | Inside the major arc | KSS; PEO | Inclusion body myositis | [11; 24; 44] | |||||
8468:16073 | 8468 | 16073 | 7604 | None | Inside the major arc | PEO | [322] | ||||||
8479:13594 | 8479 | 13594 | 5114 | None | Inside the major arc | PEO | [44] | ||||||
8482:13460 | 8482 | 13460 | 4977 | None | Inside the major arc | KSS; PEO; PS | ad/ar-PEO; ad/ar-PEO (POLGmut) | Aged tissues; Unfertilized ooc(...) | Parkinson Disease | Inclusion body myopathy (ad); (...) | Thyroid, Hepatic, Warthin's, G(...) | Reye-like; Alzheimer Disease; (...) | [2; 6; 11; 18; 21; 22; 24; 25;(...) |
8518:15422 | 8518 | 15422 | 6903 | None | Inside the major arc | PEO; KSS | MELAS | [40; 43] | |||||
8562:13759 | 8562 | 13759 | 5196 | None | Inside the major arc | PEO | HeLa cells | [150; 151] | |||||
8563:14596 | 8563 | 14596 | 6032 | None | Inside the major arc | KSS; PEO | [11] | ||||||
8571:13237 | 8571 | 13237 | 4665 | None | Inside the major arc | KSS; PEO | [11-13] | ||||||
8588:13730 | 8588 | 13730 | 5141 | None | Inside the major arc | PEO; KSS | [2] | ||||||
8624:13886 | 8624 | 13886 | 5261 | None | Inside the major arc | PEO | [11; 265] | ||||||
8707:13723 | 8707 | 13723 | 5015 | None | Inside the major arc | PEO | [115] | ||||||
8813:13304 | 8813 | 13304 | 4490 | None | Inside the major arc | PEO | [18] | ||||||
8817:15610 | 8817 | 15610 | 6792 | None | Inside the major arc | PEO | [44] | ||||||
8823:15855 | 8823 | 15855 | 7031 | None | Inside the major arc | KSS; PEO | [11; 265] | ||||||
9021:13833 | 9021 | 13833 | 4811 | None | Inside the major arc | PEO | [18] | ||||||
9180:14281 | 9180 | 14281 | 5100 | None | Inside the major arc | KSS; PEO | [11] | ||||||
9320:14273 | 9320 | 14273 | 4952 | None | Inside the major arc | PEO | [130] | ||||||
9357:13865 | 9357 | 13865 | 4507 | None | Inside the major arc | PEO | [119; 265] | ||||||
9497:13735 | 9497 | 13735 | 4237 | None | Inside the major arc | KSS; PEO; PS | Mitochondrial myopathy | Aged tissues; Unfertilized ooc(...) | Peripheral myopathy; Mitochond(...) | [7; 18; 21; 26; 32; 280; 330] | |||
9514:13052 | 9514 | 13052 | 3537 | None | Inside the major arc | PEO | [44] | ||||||
9519:15639 | 9519 | 15639 | 6119 | None | Inside the major arc | PEO | Mitochondrial myopathy | [322] | |||||
9619:15835 | 9619 | 15835 | 6215 | None | Inside the major arc | PEO | [322] | ||||||
9762:13455 | 9762 | 13455 | 3692 | None | Inside the major arc | PEO | [305] | ||||||
9816:15744 | 9816 | 15744 | 5927 | None | Inside the major arc | PEO | [26] | ||||||
10004:15360 | 10004 | 15360 | 5355 | None | Inside the major arc | PEO; PS | [297] | ||||||
10080:14959 | 10080 | 14959 | 4878 | None | Inside the major arc | PEO | Diabetes and deafness | [153] | |||||
10154:15945 | 10154 | 15945 | 5790 | None | Inside the major arc | PEO; KSS | [40; 138; 161] | ||||||
10169:14435 | 10169 | 14435 | 4265 | None | Inside the major arc | KSS; PEO | [11] | ||||||
10935:13773 | 10935 | 13773 | 2837 | None | Inside the major arc | PEO | Skeletal muscle symptoms | [18] | |||||
10951:15372 | 10951 | 15372 | 4420 | None | Inside the major arc | PEO; KSS | Skeletal muscle biopsies and ï(...) | [18; 26; 40; 44; 265; 329] | |||||
10952:15373 | 10952 | 15373 | 4420 | None | Inside the major arc | PEO | [40] | ||||||
11035:15183 | 11035 | 15183 | 4147 | None | Inside the major arc | PEO | [153] | ||||||
11368:15786 | 11368 | 15786 | 4417 | None | Inside the major arc | KSS; PEO | [11] | ||||||
11680:14258 | 11680 | 14258 | 2577 | None | Inside the major arc | PEO | [18] | ||||||
12103:14414 | 12103 | 14414 | 2310 | None | Inside the major arc | KSS; PEO | [11; 265] | ||||||
12104:14413 | 12104 | 14413 | 2308 | None | Inside the major arc | KSS; PS; PEO | Reye-like; MELAS; LS; Mitochon(...) | [45-48; 107] | |||||
12112:14422 | 12112 | 14422 | 2309 | None | Inside the major arc | KSS; PEO; PS | Reye-like; MELAS; LS; Multisys(...) | [26; 40; 44-48; 322] | |||||
12203:15355 | 12203 | 15355 | 3151 | None | Inside the major arc | PEO; KSS | Isolated mitochondrial myopath(...) | [41; 138] | |||||
12439:15390 | 12439 | 15390 | 2950 | None | Inside the major arc | PEO | Chronic fatigue syndrome; Axia(...) | [153] | |||||
9431:15423 | 9431 | 15423 | 5991 | None | Inside the major arc | PEO | [333] |