Figure 2.
Ethnicity-specific variants that determined the prevalence of hTTP. This figure shows the minor allele frequency (MAF) of the most frequent pathogenic variants identified in gnomAD population among different ethnicities. Variants p.Arg1060Trp, p.Pro457Leu, and p.Asp187His were shared by different populations. The high prevalences of hTTP found in the 3 ethnicities, including East Asians (42 per 106), Finns (32 per 106), and European populations (28 per106) were because of some pathogenic variants that were frequent in these ethnicities. Variant p.Gln723Lys was remarkably frequent among East Asians; p.Pro457Leu and p.Arg1060Trp in Finns; and variants p.Pro457Leu, p.Arg1060Trp, p.Asp187His, and c.4143dup in non-Finnish European population.
