Table 2.

Frequency of mtDNA ATPase 6/8 gene sequence alterations in 49 breast cancer patients

No	Locus	Allele	Nucleotide position	Nucleotide change	Amino acid change*	Mutation status**	Frequency	OR; 95% CI ***	P Value	Reference
1	MT-ATPase8	A8384G	8384	A-G	T7A	Hm	1	1.021;0.980-1.063	0.315	NR ****
2	MT-ATPase6	T8542C	8542	T-C	F6L	Hm	1	1.021;0.980-1.063	0.315	NR
3	MT-ATPase8	T8542C	8542	T-C	C59C	Hm	1	1.021; 0.980-1.063	0.315	NR
4	MT-ATPase6	G8557A	8557	G-A	A11T	Hm	1	1.021; 0.980-1.063	0.315	Colonic crypts cancer [34], Breast cancer [27,28]
5	MT-ATPas8	G8557A	8557	G-A	L64L	Hm	1	1.021; 0.980-1.063	0.315	Alzheimer's disease [40]
6	MT-ATPase6	T8567C	8567	T-C	I14T	Hm	1	1.021; 0.980-1.063	0.315	Parkinson's disease [42]
7	MT-ATPas8	T8567C	8567	T-C	S68P	Hm	1	OR 1.021;: 0.980-1.063	0.315	Parkinson's disease [49]
8	MT-ATPase6	G8572A	8572	G-A	G16S	Hm	1	OR 1.021; 0.980-1.063	0.315	Thyroid tumor [50]
9	MT-ATPas8	G8572A	8572	G-A	G69S	Hm	1	1.021; 0.980-1.063	0.315	Colonic crypts cancer [34]
10	MT-ATPase6	C8684T	8684	C-T	T53I	Hm	1	1.021; 0.980-1.063	0.315	Multiple Sclerosis [51], Ataxia telangiectasia [21], Huntington [52], Autism [53], Osteosarcoma [54],
11	MT-ATPase6	T8697C	8697	T-C	I24T	Hm	1	1.021; 0.980-1.063	0.315	Thyroid tumor [50], Multiple Sclerosis [51], Ataxia telangiectasia [21], Breast cancer [30], Colorectal adenomatous polyps [40]
12	MT-ATPase6	A8701G	8701	A-G	T59A	Hm	2	1.043; 0.984-1.105	0.153	Thyroid tumor [50], Ataxia telangiectasia [21], Breast cancer [27,29], colorectal adenomatous polyps [38], Osteosarcoma [54]
13	MT-ATPase6	T8777C	8777	T-C	F117F	Hm	1	1.021; 0.980-1.063	0.315	NR
14	MT-ATPase6	C8794T	8794	C-T	H90Y	Hm	2	1.043; 0.984-1.105	0.153	Exercise Endurance/Coronary Atherosclerosis risk[32]
15	MT-ATPase6	A8860G	8860	A-G	T112A	Hm	49		0.000	Colorectal cancer [36,38], Ovarian cancer [37], Breast cancer [27,29,34], Human glioma cells [33], Osteosarcoma [54], Leber's hereditary optic neuropathy [35]
16	MT-ATPase6	T8877C	8877	T-C	F117F	Hm	3	1.065; 0.992–1.114	0.079	Leber's hereditary optic neuropathy [55]
17	MT-ATPase6	T8881C	8881	T-C	S119P	Ht	1	1.021; 0.980-1.063	0.315	NR
18	MT-ATPase6	C8910T	8910	C-T	F128F	Ht	2	1.043; 95% CI: 0.984-1.105	0.153	The southern belt of Siberia population [56]
19	MT-ATPase6	G8950A	8950	G-A	V142I	Hm	2	1.043; 0.984-1.105	0.153	Huntington [54],LDYT [57]
20	MT-ATPase6	G8994A	8994	G-A	L156L	Hm	1	1.021; 0.980-1.063	0.315	Ataxia telangiectasia [21], Breast cancer [27], Colorectal adenomatous polyps [38]
21	MT-ATPase6	C9003A	9003	C-A	R159R	Hm	1	OR 1.021; 0.980-1.063	0.315	NR
22	MT-ATPase6	A9007G	9007	A-G	T161A	Hm	1	1.021; 0.980-1.063	0.315	Deafness associated [58]
23	MT-ATPase6	A9041G	9041	A-G	H172R	Hm	1	1.021; 0.980-1.063	0.315	NR
24	MT-ATPase6	G9055A	9055	G-A	A177T	Hm	3	1.065; 0.992–1.114	0.079	Colorectal cancer [36], Colorectal adenomatous polyps [38], Breast cancer [28,30], Non-muscle invasive bladder cancer [44], Osteosarcoma [54], Pancreatic cancer [43], Parkinson's disease protective factor [45]
25	MT-ATPase6	G9085A	9085	C-T	P187S	Hm	1	1.021; 0.980-1.063	0.315	NR
26	MT-ATPase6	T9090C	9090	T-C	S188S	Hm	1	1.021; 0.980-1.063	0.315	Colorectal cancer [59] Leber's hereditary optic neuropathy [60]
27	MT-ATPase6	T9148C	9148	T-C	L208L	Hm	1	1.021; 0.980-1.063	0.315	Occipital stroke [61]
28	MT-ATPase6	C9168T	9168	C-T	F214F	Hm	1	1.021; 0.980-1.063	0.315	NR

Abbreviations:

*Missense mutations are in bold.

**Hm: Homoplasmic, Ht: Heteroplasmic.

*** OR; Odds ratio, (95% CI); confidence interval reflects a significance level of 0.05.

****NR; Not reported in mitomap website.