TABLE 6

Number and location of recurrent mutations in the mtDNA coding region (577–16023)

No. of recurrencesNucleotide positions
14709 ∼r
1013708 (A to T)
81888 ∼r, 8251
711914, 10398 (A ↔ T)
51438 ∼r, 5460 (A to T), 13105 (I to V)
41598 ∼r, 1719 ∼r, 3010 ∼r, 13928C (S to T), 13966 (T to A), 15930 ∼t, 5147, 13368, 15217
33394 (Y to H), 5821 ∼t, 12172 ∼t, 14110 (F to L), 15110 (A to T), 15924 ∼t, 5231, 6182, 6221, 7055, 8790, 9545, 9554, 9950, 12007, 12501, 13359, 15514
2930 ∼r, 1503 ∼r, 2768 ∼r, 3434 (Y to C), 4025 (T to M), 4048 (D to N), 5046 (V to I), 5773 ∼t, 8027 (A to T), 10084 (I to T), 12236 ∼t, 12950 (N to S), 13759 (A to T), 14687 ∼t, 15758 (I to V), 15927 ∼t, 3666, 3915, 4562, 4580, 4688, 4703, 5417, 5471, 5585-nc, 6260, 6446, 6680, 6752, 7076, 7388, 8020, 8152, 8155, 8392, 8964, 8994, 9254, 9266, 9509, 9755, 9824, 9932, 10685, 10790, 11260, 11944, 12354, 12477, 12810, 14007, 14034, 14148, 14182, 14905, 15115, 15301, 15784, 15884-nc
  • Amino acid changes are indicated in parentheses. ∼r, change in rRNA; ∼t, change in tRNA sequences; nc, change in noncoding position. The following positions showed a single recurrence, having mutated twice: 593 ∼t, 597 ∼t, 719 ∼r, 813 ∼r, 827 ∼r, 1018 ∼r, 1193 ∼r, 1243 ∼r, 1694 ∼r, 1811 ∼r, 1822 ∼r, 2245 ∼r, 2332 ∼r, 2352 ∼r, 2416 ∼r, 2706 ∼r, 2757 ∼r, 2772 ∼r, 2789 ∼r, 2885 ∼r, 3203 ∼r, 3206 ∼r, 3505 (T to A), 4500 (S to P), 4596 (V to I), 4824 (T to A), 4917 (N to D), 5442 (F to L), 5910 (A to T), 6253 (M to T), 6261 (A to T), 6480 (V to I), 7389 (Y to H), 7444 (Ter to K), 7569 ∼t, 7673 (I to V), 7805 (V to I), 7853 (V to I), 8329G ∼t, 8387 (V to M), 8393 (P to S), 8566 (I to V), 8584 (A to T), 9095 (L to P), 9139 (A to T), 9438 (G to S), 9477 (V to I), 9861 (F to L), 9966 (V to I), 10031 ∼t, 10143 (G to S), 10321 (V to A), 10463 ∼t, 11016 (S to N), 11025 (L to P), 12142 ∼t, 12248 ∼t, 12346 (H to Y), 12358 (T to A), 12397 (T to A), 12940 (A to T), 13135 (A to T), 13145 (S to N), 13651 (T to A), 13879 (S to P), 13889 (C to Y), 14129 (T to I), 14180 (Y to C), 14315 (S to N), 14798 (F to L), 15287 (F to L), 15314 (A to T), 15317 (A to T), 15323 (A to T), 15326 (T to A), 15479 (F to L), 15907 ∼t, 15928 ∼t, 15939 ∼t, 15951 ∼t, 3483, 3591, 3693, 3777, 3834, 3852, 4038, 4117, 4200, 4248, 4655, 4715, 4823, 4883, 4907, 4916, 4937, 5054C, 5162, 5237, 5393, 5580-nc, 5581-nc, 5656-nc,6026, 6179, 6392, 6431, 6455, 6827, 7184, 7337, 7424, 7861, 8050, 8104, 8227, 8269, 8277-nc,8383, 8485, 8697, 8856, 9150, 9180, 9299, 9305, 9365, 9377, 9449, 9716, 9758, 9899, 10238, 10389, 10586, 10589, 10688, 11002, 11257, 11299, 11332, 11350, 11353, 11383, 11404, 11437, 11452, 11812, 11854, 12372, 12432, 12540, 12609, 12630, 12720, 12771, 13020, 13104, 13116, 13215, 13263, 13470, 13590, 13680, 13827, 13980, 14094, 14212, 14233, 14323, 14364, 14470, 14560, 14581, 14620, 14668, 15043, 15061, 15106, 15148, 15172, 15289, 15313, 15346, 15394, 15454, 15466, 15550, 15607, 15670, 15697, 15883, 15886-nc.