MTMR8 segment haplotypes.

The haplotype spans 11 Kb of the MTMR8 gene, starting in intron 3 and ending in intron 5; the location of its polymorphic sites within the hg 19 genome reference sequence are shown in the third line. New alleles appear on the background of ancestral (chimpanzee) alleles, which are also shared with Neandertal and Denisova sequences, except for the polymorphic site 6 (highlighted in grey) where the derived allele is the same as that found in the Neandertal genome. The polymorphic sites 25 and 31, involving CpG-dinucleotides, are assumed to have mutated twice, indicated by asterisk, to create separate haplotypes 5 and 2, respectively (both found among Khoe-San).