From: Mutation patterns of mtDNA: Empirical inferences for the coding region
Motif | Position | Region | % in/del in database individuals | % heteroplasmic families in empirical studies |
---|---|---|---|---|
CCCCCCCTCCCCC or CCCCCCCTCCCCCC | 303–315 | D-loop (Hypervariable region II, conserved sequence block 2) | 63% (566/897) | 54.16% (26/48)b |
CCCCCGCCC | 494–502 | D-loop | 0% (0/1457) | - |
CCACACCCCCAC | 797–808 | 12S ribosomal RNA | 0% (0/1457) | - |
CACCCCCTCCCC | 954–965 | 12S ribosomal RNA | 2.7% (40/1457) | - |
CCCCCCTCCCC | 3566–3576 | NADH Dehydrogenase subunit 1 | 0% (0/1457) | 0% (0/46) |
CCCAACCCCC | 3580–3589 | NADH Dehydrogenase subunit 1 | 0% (0/1457) | 0% (0/46) |
CCCCCCACCC | 7397–7406 | Cytochrome c oxidase subunit I | 0% (0/1457) | - |
CACCCCCTCTACCCCCTCT | 8270–8288 | non-coding region | 0.3% (4/1457)a | - |
CCCCTACCCCCC | 9526–9537 | Cytochrome c oxidase subunit III | 0% (0/1457) | - |
CCCCCGCCC | 10192–10200 | NADH dehydrogenase subunit 3 | 0% (0/1457) | - |
CCCCCCTCC | 10947–10955 | NADH dehydrogenase subunit 4 | 0% (0/1457) | - |
CCCCCGCATCCCCCTTCC | 13754–13771 | NADH dehydrogenase subunit 5 | 0% (0/1457) | - |
CCTCCCCC | 14528–14535 | NADH dehydrogenase subunit 6 | 0% (0/1457) | - |
CCCCCTCCCC | 16184–16193 | D-loop (Hypervariable region I) | 24.7% (222/897) | 22.92% (11/48)b |