Table 4. .
Breakpoints of Deletion Mutations[Note]
| Fiber | Breakpoint Sequence | Deleted Genes |
| 1 | AGGAAGGAACCCCCCAAA(GCTGG)—(GCTGG)GTCAATAGTACTTGCCGCAG | tRNAser—ND4 |
| 2 | TATAATACGCCTCACACTCATTCTCAACCC—GCTGTCACTTTCCTAGGACTTCTAACAG | ND4—ND5 |
| 3 | CGCCCACGGGCTTACATCCTCATTACTATT—TTCGCCTACACAATTCTCCGATCCGTCC | ND4—Cytb |
| 4 | ATCATCGCTATCCCCACCGGCGTCAAAGT—CAGTCTCAGCCCTACTCCACTCAAGCA | COXI—ND5 |
| 5 | GAGAAGCCCCGGCAGGTTTGAAGCTGCTTC—CCTAGCATCACACACCGCACAATCCCC | tRNAcys—ND5 |
| 6 | CCTGGAG(CCTCCGTAGACCTAACC)—(cctcctagacctaacc) TGACTAGAA | COXI—ND5 |
| 7 | GCCCCGGCAGGTTTGAAGCTGCTTC—CCTACACAATTCTCCGATCCGTCCCTAAC | tRNAcys—Cytb |
| 8 | TTTCCGACGGCATCTACGGCTCAACATTTTT—GAATGATATTTCCTATTCGCCTACACAA | COXIII—Cytb |
| 9 | CCAAACATCACTTTGGCTTCGAAGCCGCCG—CCCATCAACAACCGCTATGTATTTCGTA | COXIII—HVS1 |
| 10 | ATCAATATAAAACCCCCTGCCA—CTCTCTTTCTTCTTCCCACTCATCCTA | COXI—ND5 |
| 11 | ACCTGAGCTCACCATAGTCTAATAGAA—TTACAAACTTACTATCCGCCATCCCATAC | COXIII—Cytb |
| 12 | ATTCATTGCCCCCACAATC(CTAGGCCT)—(CTAGGCCT)TCTTACGAGCCAAAACCTG | ATP6—ND5 |
| 13 | CATCGGCGT AAATCTAACTTTCTTC(CACC)—(CACC)GCTAACAATCAATACTAAACCC | COXI—ND6 |
| 14 | CCTATCATATAGTAAAA(CCCA)—(CCCA)CCCCAGTCTCAGC | COXIII—ND5 |
| 15 | ATGCCCTTTTCCTAACACTC—TCTTCTTCCCACTCATCCTA | COXII—ND5 |
| 16 | TAAATCTAACT(TTCTTCCCAC)—(TTCTTCCCAC)TCATCCTAACCCTA | COXI—ND5 |
| 17 | AGTCTCCCTTCAC(CATTTCC)—(CATTTCC)CCCGCATCCCCCTTC | COXIII—ND5 |
| 18 | TTCTTCTCACATGACAAAAACTAGCCC—CTCACCCATCAACAACCGCTATGTATT | ND2—HVS1 |
| 19 | CCTGGAG(CCTCCGTAGACCTAACC)—(cctcctagacctaacc) TGACTA | COXI—ND5 |
| 20 | CCCCAACCTTTTCCTCCG(ACCCC)—(ACCCC)TTAAACACCCCTCCCCAAT | ND4—Cytb |
| 21 | AGTGACTATATGGATGCCCCCC—CCCCACCCTACTAAACCCCATTCG | COXI—ND5 |
| 22 | ACGCTCCTCATACTAGG(cctactaa)—(CCCACTAA)TCCAAACTCTAAC | COXIII—ND5 |
| 23 | CTATATGGATG(CCCCCCACCCT)—(ccccccatcct)TACCACCCCGTT | COXI—ND5 |
| 24 | GGCATCACCCCGCTA(AATCCCCTA)—(AATCCCCTA)TCTAGGCCTTCTT | COXIII—ND5 |
| 25 | ATATAGTAAAACCCAGCCCA(TGACCCC)—(TGACCCC)CATGCCTCAGGATACTCCT | COXIII—ND6 |
| 26 | ATATTAAACACAAACTACCA(CCTACCTCC)—(CCTACCTCC)ATCGCTAACCCCACTAAA | ATP6—ND6 |
| 27 | GAAAACACCCTCATGTTCATACAC(CTATC)—(CTATC)TCCCTAATTGAAAACAAAATACT | ND4—Cytb |
| 28 | TATGGATGCCCCC(CACCCTACCACAC)—(cacccgaccacac) CGCTAACAATCAAT | COXI—ND6 |
| 29 | TAAATACTTGACCACCTGTAGT(ACATAAA)—(ACATAAA)GCCATTTACCGTACATAGCA | HVS1—HVS1 |
| 30 | TGGAGCCTCCG(TAGACCTAACC)—(cctccTAGACCTAACC) TGACTAGAAAA | COXI—ND5 |
| 31 | CTACGCATCCTTTACATAACAGACG—TTAGCAGGAATACCTTTCCTCACAGG | COXII—ND5 |
| 32 | AATCTGTTCGCTTCATTCAT(TGCCCC)—(TGCCCC)ACTCCTCCTAGACCTAACCT | ATP6—ND5 |
| 33 | CAGTGCTCTGAGCCCTAGGA(TTCATCTT)—(ttctctt)CCTTCTCTCCTTAA | COXI—Cytb |
| 34 | AGTCCTAGCTGCTGGCATCA(ctatactac)—(CTATATTAC)GGATCATTTCTCTACTCA | COXI—Cytb |
| 35 | CCCTCATTTACATAAATATT(ATAC)—(ATAC)GCAAAACTAACCCCCTAATAA | ND4—Cytb |
| 36 | CCTGGAG(CCTCCGTAGACCTAACC)—(cctcctagacctaacc) TGACTAGAA | COXI—ND5 |
| 37 | CCTGGAG(CCTCCGtagacctaacc)—(cctccTAGACCTAACC)TGACTAGA | COXI—ND5 |
| 38 | GCAGTGCTCTGAGCCCTAGGATTCA(TCTT)—(TCTT)CCTTCTCTCCTTAATGACATTAACA | COXI—Cytb |
| 39 | GCAGTGCTCTGAGCCCTAGGATTCA(TCTT)—(TCTT)CCTTCTCTCCTTAATGACATTAACA | COXI—Cytb |
| 40 | TAATACTAACTACCTGACTCCT(ACCCCTC)—(ACCCCTC)CCCACATCAAGCCCGAATG | tRNAleu—Cytb |
| 41 | CGCATCCTTTACATAACAGACGAGGTCAA—GCTATCCATTGGTCTTAGGCCCCAAAA | ND4—Cytb |
| 42 | ACTCTACCTCTCTATACTA (ATCTCCCTA)—(ATCTCCCTA)ATTGAAAACAAAAT | COXII—ND4 |
| 43 | TAATACTAACTACCTGACTCCT(ACCCCTC)—(ACCCCTC)CCCACATCAAGCCCGAATG | ND4—Cytb |
| 44 | CTGTTCCCCAACCTTTTCCTCCGAC(CCCC)—(CCCC)ACATCAAGCCCGAATGATATTTC | ND4—Cytb |
| 45 | AGCGGCAGGTTTGAAGCTGCTTCTT—TCAACAACCGCTATGTATTTCGTACAT | ND4—Cytb |
| 46 | AGCCCCGGCAGGTTTGAAGCTGCT—CCATCAACAACCGCTATGTATTTCGAT | OL—HVS1 |
| 47 | ATAGGAGGCTTCATTCACTGATTTCCCC—CCATCAACAACCGCTATGTATTTCGTA | OL—HVS1 |
| 48 | GATGGCAGAGCCCGGTAATCGCATAAAAC—CCCATCAACAACCGCTATGTATTTCGTAC | COXI—HVS1 |
Note.— The breakpoint sequence is based on human mitochondrial genome sequences (1–16,569 bp) (GenBank accession number 1944628). Letters in parentheses represent direct repeats flanking the breakpoints. Imperfect direct repeats are shown in bold italics. Deleted nucleotides are in lowercase letters.