Private non-synonymous and mt-tRNA variants in Chinese LHON mtDNAs with m.11778G>A and m.593T>C.

aThe complete mtDNA complete genomes of Le1192 and Le1407 contained no private non-synonymous and mt-tRNA variants and were not included.bThe search was performed on April 18, 2011 following the same strategy described earlier [23] (e.g. both ‘G6249A mtDNA’ and ‘m.6249G>A mtDNA’ were queried).cThe conservation analysis was performed by comparing Homo sapiens mtDNA (GenBank accession No. J01415) to 43 different vertebrate species by using the MitoTool (http://www.mitotool.org) [22].dThe column “Haplogroup specific variant” refers to the presence of the corresponding variants in the world mtDNA phylogeny displayed at http://www.phylotree.org/tree/main.htm (mtDNA tree Build 11; 7 Feb 2011) [21]. In round brackets we indicate the haplogroup status as it defined in that tree.