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Fig. 3 | Genome Medicine

Fig. 3

From: Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1

Fig. 3

OCT1 alleles and their global distribution. a Shown are the haplotype combinations constituting the 16 major and 14 sub-alleles of OCT1 observed in the worldwide genetic analyses. As major we defined alleles carrying amino acid substitutions (highlighted in yellow) that cause a more than 50 % decrease or 50 % increase of OCT1 activity in comparison to the reference OCT1*1 allele for at least one substrate tested. The sub-allele of a major allele differs by amino acid substitutions (highlighted in white) that do not affect OCT1 activity. For details about variants affecting or not affecting OCT1 activity see Fig. 4 and the results section in the text. b Cladogram illustrating the relations between the major OCT1 alleles and their worldwide distribution. Different world regions are indicated in colors. Pie size represents the global allele frequency. The amino acid substitutions that distinguish between the alleles are shown. Allele OCT1*16 is missing from the cladogram as it was observed only in admixed population from the 1000 Genomes Project and could not be assigned to any world region. The cladogram was generated using the median joining algorithm of the NETWORK software version 4.6 (Fluxus Technology Ltd.)

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