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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 |
478:5160 | 478 | 5160 | 4681 | None | Inside the minor arc | KSS | [58; 265] | ||||||
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] | |||
5836:12662 | 5836 | 12662 | 6825 | None | Inside the major arc | KSS | [40] | ||||||
6003:15441 | 6003 | 15441 | 9437 | None | Inside the major arc | KSS | [26] | ||||||
6023:14424 | 6023 | 14424 | 8400 | None | Inside the major arc | KSS | [118] | ||||||
6084:13808 | 6084 | 13808 | 7723 | None | Inside the major arc | KSS | [40; 265] | ||||||
6124:15893 | 6124 | 15893 | 9768 | None | Inside the major arc | KSS | [259] | ||||||
6226:13456 | 6226 | 13456 | 7229 | None | Inside the major arc | KSS | [118; 265; 326] | ||||||
6238:14103 | 6238 | 14103 | 7864 | None | Inside the major arc | KSS | [152] | ||||||
6326:13990 | 6326 | 13990 | 7663 | None | Inside the major arc | KSS | Mitochondrial myopathy; Multis(...) | [136; 137] | |||||
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;(...) | ||||
6331:13994 | 6331 | 13994 | 7662 | None | Inside the major arc | KSS | Multisystemic mitochondrial di(...) | [3] | |||||
6341:14005 | 6341 | 14005 | 7663 | None | Inside the major arc | KSS; Mitochondrial myopathy | MNGIE; ad-PEO; Patients with p(...) | Ptosis; Proximal limb weakness(...) | [15; 40; 265; 282; 315; 326-32(...) | ||||
7193:14596 | 7193 | 14596 | 7402 | None | Inside the major arc | KSS | [19] | ||||||
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] | |||||
7506:14433 | 7506 | 14433 | 6926 | None | Inside the major arc | KSS | Aged tissues | [6; 40; 326] | |||||
7508:15939 | 7508 | 15939 | 8430 | None | Inside the major arc | KSS | Sublimons | [23; 26] | |||||
7635:15440 | 7635 | 15440 | 7804 | None | Inside the major arc | KSS | Lowe Syndrome | [141] | |||||
7669:15437 | 7669 | 15437 | 7767 | None | Inside the major arc | KSS; PEO | Evolution from PS; Sideroblast(...) | [11; 155; 265] | |||||
7696:12365 | 7696 | 12365 | 4668 | None | Inside the major arc | KSS | [34] | ||||||
7697:12364 | 7697 | 12364 | 4666 | None | Inside the major arc | KSS | Mitochondrial myopathy | [34; 108] | |||||
7814:14805 | 7814 | 14805 | 6990 | None | Inside the major arc | KSS | Aged tissues | Diffuse leukodystrophy; Major (...) | [33; 275; 326; 330; 349] | ||||
7828:13385 | 7828 | 13385 | 5556 | None | Inside the major arc | KSS | [18] | ||||||
7846:9749 | 7846 | 9749 | 1902 | None | Inside the major arc | PEO; KSS | Myoblasts | [40; 160; 161] | |||||
7869:13455 | 7869 | 13455 | 5585 | None | Inside the major arc | KSS | [322; 326] | ||||||
7885:15698 | 7885 | 15698 | 7812 | None | Inside the major arc | KSS | [302] | ||||||
7949:14315 | 7949 | 14315 | 6365 | None | Inside the major arc | KSS | [26] | ||||||
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(...) | ||||
7983:15504 | 7983 | 15504 | 7520 | None | Inside the major arc | KSS | [302] | ||||||
8135:15340 | 8135 | 15340 | 7204 | None | Inside the major arc | KSS | [312] | ||||||
8278:13770 | 8278 | 13770 | 5491 | None | Inside the major arc | KSS | [274] | ||||||
8280:8290 | 8280 | 8290 | 9 | None | Inside the major arc | KSS | Normal tissues (polymorphism) | Adrenal failure; Sensineural h(...) | [53; 61-106] | ||||
8387:11364 | 8387 | 11364 | 2976 | None | Inside the major arc | KSS | [322] | ||||||
8420:11498 | 8420 | 11498 | 3077 | None | Inside the major arc | KSS | [3] | ||||||
8426:12894 | 8426 | 12894 | 4467 | None | Inside the major arc | KSS | [40] | ||||||
8426:15640 | 8426 | 15640 | 7213 | None | Inside the major arc | KSS | Multisystemic mitochondrial di(...) | [322] | |||||
8468:13446 | 8468 | 13446 | 4977 | None | Inside the major arc | KSS; PEO | Inclusion body myositis | [11; 24; 44] | |||||
8470:13447 | 8470 | 13447 | 4976 | None | Inside the major arc | KSS | Solid tumors | [157; 340] | |||||
8475:14381 | 8475 | 14381 | 5905 | None | Inside the major arc | KSS | Aged tissues | Hippocampal tissue of patients(...) | [9; 322; 330] | ||||
8476:14812 | 8476 | 14812 | 6335 | None | Inside the major arc | KSS | Aged tissues | [18; 44; 163] | |||||
8482:13460 | 8482 | 13460 | 4977 | None | Inside the major arc | KSS; PEO; PS; Chronic PEO; Myo(...) | 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] | |||||
8562:14429 | 8562 | 14429 | 5866 | None | Inside the major arc | KSS | [322] | ||||||
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] | ||||||
8572:15826 | 8572 | 15826 | 7253 | None | Inside the major arc | KSS | [259] | ||||||
8588:13730 | 8588 | 13730 | 5141 | None | Inside the major arc | PEO; KSS | [2] | ||||||
8631:13580 | 8631 | 13580 | 4948 | None | Inside the major arc | KSS | [149] | ||||||
8648:16085 | 8648 | 16085 | 7436 | None | Inside the major arc | PS; KSS | Mitochondrial myopathy; Patien(...) | Sublimons; Aged tissues; Unfer(...) | Inclusion body myositis | Hepatic tumors | Cirrhotic liver; Diabetes mell(...) | [18; 21-24; 29; 107; 144; 146;(...) | |
8823:15855 | 8823 | 15855 | 7031 | None | Inside the major arc | KSS; PEO | [11; 265] | ||||||
8838:14906 | 8838 | 14906 | 6067 | None | Inside the major arc | KSS | Mitochondrial myopathy; Multis(...) | [136; 137; 265] | |||||
9144:13816 | 9144 | 13816 | 4671 | None | Inside the major arc | KSS | [118; 265] | ||||||
9180:14281 | 9180 | 14281 | 5100 | None | Inside the major arc | KSS; PEO | [11] | ||||||
9258:13627 | 9258 | 13627 | 4368 | None | Inside the major arc | KSS | [3] | ||||||
9484:13724 | 9484 | 13724 | 4239 | None | Inside the major arc | KSS | [153] | ||||||
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] | |||
10051:15077 | 10051 | 15077 | 5025 | None | Inside the major arc | KSS | SNHL | [61; 276] | |||||
10063:14598 | 10063 | 14598 | 4534 | None | Inside the major arc | KSS | Isolated mitochondrial myopath(...) | [40; 41] | |||||
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] | ||||||
10207:13766 | 10207 | 13766 | 3558 | None | Inside the major arc | KSS | [36] | ||||||
10370:15570 | 10370 | 15570 | 5199 | None | Inside the major arc | KSS | [40] | ||||||
10559:14981 | 10559 | 14981 | 4421 | None | Inside the major arc | PS; KSS | [3] | ||||||
10587:15913 | 10587 | 15913 | 5325 | None | Inside the major arc | KSS | [40] | ||||||
10625:13059 | 10625 | 13059 | 2433 | None | Inside the major arc | KSS | [26] | ||||||
10951:15372 | 10951 | 15372 | 4420 | None | Inside the major arc | PEO; KSS | Skeletal muscle biopsies and ï(...) | [18; 26; 40; 44; 265; 329] | |||||
10952:13990 | 10952 | 13990 | 3037 | None | Inside the major arc | KSS | [3] | ||||||
10953:15837 | 10953 | 15837 | 4883 | None | Inside the major arc | KSS | Mitochondrial myopathy; Multis(...) | [136; 137] | |||||
10969:14119 | 10969 | 14119 | 3149 | None | Inside the major arc | KSS | Cyclic vomiting syndrome | [127] | |||||
11036:15028 | 11036 | 15028 | 3991 | None | Inside the major arc | KSS | [18] | ||||||
11258:14369 | 11258 | 14369 | 3110 | None | Inside the major arc | KSS | [30] | ||||||
11368:15786 | 11368 | 15786 | 4417 | None | Inside the major arc | KSS; PEO | [11] | ||||||
11668:15916 | 11668 | 15916 | 4247 | None | Inside the major arc | KSS | [18] | ||||||
11731:14450 | 11731 | 14450 | 2718 | None | Inside the major arc | KSS | [26] | ||||||
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] | |||||
12122:15844 | 12122 | 15844 | 3721 | None | Inside the major arc | KSS | [29] | ||||||
12203:15355 | 12203 | 15355 | 3151 | None | Inside the major arc | PEO; KSS | Isolated mitochondrial myopath(...) | [41; 138] | |||||
6113:13970 | 6113 | 13970 | 7856 | None | Inside the major arc | KSS | [332] | ||||||
1835:7827 | 1835 | 7827 | 5991 | OL | Removing part of minor and maj(...) | KSS | [344] | ||||||
6068:11957 | 6068 | 11957 | 5888 | None | Inside the major arc | KSS | [335] | ||||||
6341:13989 | 6341 | 13989 | 7647 | None | Inside the major arc | Chronic PEO; Myopathy; KSS | [338; 339] | ||||||
7437:15065 | 7437 | 15065 | 7627 | None | Inside the major arc | KSS | [340] | ||||||
8470:13446 | 8470 | 13446 | 4975 | None | Inside the major arc | KSS | [339; 344; 345] | ||||||
8648:16024 | 8648 | 16024 | 7375 | None | Inside the major arc | KSS | [349] | ||||||
8703:15303 | 8703 | 15303 | 6599 | None | Inside the major arc | KSS | [343] | ||||||
8715:15446 | 8715 | 15446 | 6730 | None | Inside the major arc | KSS | [349] | ||||||
9224:14369 | 9224 | 14369 | 5144 | None | Inside the major arc | KSS | [349] | ||||||
10372:15759 | 10372 | 15759 | 5386 | None | Inside the major arc | KSS | [340] |