Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

BMC Neurology

Table 2 Non-synonymous nucleotide changes reported in published mtDNAs with m.4171C>A

Case	Origin	Haplogroup	Non-synonymous nucleotide changes^a	Reference
1	Korea	A	4171A, 4824, 8794, 14766	[9]
2	Korea	A	4171A	[9]
3	China	n.a.	n.a.	[10]
4	China	N9a1	4171A, 10203 ^b,,12358, 14564 ^b, 14766, 14841 ^c, 15095	[11]
5	France	J2b1	4171A, 4216, 7632 ^c, 10398, 13708, 14766, 15257, 15452A, 15812	[8]
6	Belarus	H	4171A, 4705 ^b, 5263 ^b, 14180 ^b	Present study

^aThe non-synonymous nucleotide changes at nps 8860 (8860G) and 15326 (15326G), present in all sequenced samples, are not included because they are private mutations of the reference sequence.⁷ In Italics, variants outside of their usual mtDNA background: ^b)variants in Complex I subunits or ^c)variants outside in Complex I subunits.

ISSN: 1471-2377