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. Author manuscript; available in PMC: 2011 Jan 1.
Published in final edited form as: Biochim Biophys Acta. 2009 Aug 4;1797(1):29–37. doi: 10.1016/j.bbabio.2009.07.008

Table 1.

Mitochondrial DNA Sequences of Breast Cancer Cell Lines and Cybrids

Mutations Gene Base Change Codon AA Change 10A 231 436 453 Reported in Mitomap
Haplogroup HV X H H
72T>C HV2 T>C + Yes
73A>G HV2 A>G + + + Yes
153A>G HV2 A>G + Yes
185G>A HV2 G>A + Yes
185G>A HV2 G>T + Yes
195T>C HV2, OH T>C + Yes
225G>A CSB1 G>A + Yes
226T>CT CSB1 T>C + Yes
228G>A CSB1 G>A + + Yes
241A>G mtTF1 binding A>G Yes
263A>G HV2 A>G + + + + Yes
295C>T mtTF1 bidning C >T + + Yes
300_301het_insCC + Yes
310T>C OH, CSB2 T>C + Yes
310_311insC + Yes
315_316insC OH, CSB2 insC + Yes
462C>T d-loop C >T + Yes
489T>C d-loop T>C + + (ht) Yes
514_515insAC + Yes
750A>G MTRNR1 (12S) A>G + + + + Yes
751A>G MTRNR1 (12S) A>G + novel
1320G>AG MTRNR1 (12S) G>A + novel
1438A>G MTRNR1 (12S) A>G + + + + Yes
1719G>A 16S rRNA G>A + Yes
2285T>C MTRNR2 (16S) T>C + novel
2706A>G MTRNR2 (16S) A>G + + Yes
3010G>A MTRNR2 (16S) G>A + Yes
3915G>A ND1 G>A GGG>GGA G203G + Yes
3992C>T ND1 C>T ACA>ATA T229M + Yes
4216T>C ND1 T>C TAT>CAT Y304H + + (ht) Yes
4769A>G ND2 A>G ATA>ATG M100M + + + + Yes
6221T>C COI T>C CCT>CCC P106P + Yes
6249G>A COI G>A GCT>ACT A116T + novel
6267G>A COI G>A GCA>ACA A122T + novel
6371C>T COI C >T TCC>TCT S156S + Yes
7028C>T COI C >T GCC>GCT A375A + + Yes
7458G>AG MT-TS1 G>A + (ht) novel
8269G>A Non-coding G>A + Yes
8860A>G ATP6 A>G ACA>GCA T112A + + + + Yes
9123G>A MTATP6 G>A CTG>CTA L199L + Yes
10044A>G tRNA Gly A>G + Yes
10084T>C ND3 T>C ATC>ACC I9T + Yes
11251A>G ND4 A>G CTA>CTG L164L + Yes
11719G>A ND4 G>A GGG>GGA G320G + + Yes
11932C>T ND4 C>T ATC>ATT I391I + novel
12612A>G ND5 A>G GTA>GTG V92V + Yes
12705C>T ND5 C>T ATC>ATT I123I + Yes
13020T>C ND5 T>C GGT>GGC G228G Yes
13135G>A ND5 G>A GCA>ACA A267T + Yes
13708G>A ND5 G>A GCA>ACA A458T + Yes
13966A>G ND5 A>G ACG>GCG T544A + Yes
14365C>T ND6 C>T GTG-GTA(Rev) V103V + Yes
14470T>C ND6 T>A GGA>GGT G68G + novel
14766C>T CYTB C>T ACT>ATT T7I + Yes
15034A>G CytB A>G CTA>CTG L96L + Novel
15326A>G CYTB A>G ACA>GCA T194A + Yes
15894G>A MT-TT G>A + novel
16069C>T HV1 C >T + Yes
16126T>C HV1 T>C + + Yes
16129G>C HV1 G>A + Yes
16189T>A HV1 T>A + novel
16223C>T HV1 C>T + Yes
16278C>T HV1 C>T + Yes
16319G>A HV1 G>A + Yes
16519T>C D-loop T>C + + Yes

Note: ht: heteroplasmy