Private non-synonymous and mt-rRNA variants in four Chinese LHON patients with m.11778G>A and a haplogroup status of M7b1′2.

aThe evolutionary conservation analysis was performed by comparing human mtDNA (GenBank accession no. J01415) to 43 different primate species by using the MitoTool (http://www.mitotool.org) [30]. A conservation index of 1 for certain variant means that this position is conserved in all species considered for comparison.bWeb and dataset based searches were performed on September 5, 2011, following the same strategy described in our previous study [29] (e.g. both ‘G6249A mtDNA’ and ‘m.6249G>A mtDNA’ were queried).cThe column “Haplogroup specific variant” refers to the presence of the corresponding variant in the world mtDNA phylogenetic tree displayed at http://www.phylotree.org/tree/main.htm (mtDNA tree Build 12; 20 Jul 2011) [31]. We listed the haplogroup name if it was characterized by the private variants identified in our newly generated M7b sequences.