Figure 2

Phylogenetic network based on the coding sequence of mtDNA from 64 patients with matrilineal diabetes. Inside the nodes, cases identified by numbers. Fast evolving sites m.303, m.311 and m.16519 were not included in the network. Outgroup, an African sequence [GenBank:AF346980]; CRS, the revised Cambridge Reference Sequence [GenBank:NC_012920]. Superscripts indicate transversions, novel variants and inserted or deleted nucleotides: i = insertion, D = deletion, @ = back mutation, * = heteroplasmic mutation. D9bp, deletion spanning between the positions m.8281 and m.8289. Nonsynonymous substitutions are shown in red font, the tRNA variants in blue font. Underlined nonsynonymous variants were deemed to be possibly or probably damaging in PolyPhen-2 analysis.