Table 3.
Frequency (%) of Subjects with p.Arg408Trp and p.Arg261Gln Variants on at least One Allele (Compound Heterozygotes or Homozygotes) in Different Countries
| p.Arg408Trp | %a | p.Arg261Gln | %a |
|---|---|---|---|
| Estonia | 98.9 | Bulgaria | 29.7 |
| Poland | 89.2 | Portugal | 23.5 |
| Romania | 87.5 | Switzerland | 21.0 |
| Russia | 75.7 | Brazil | 20.5 |
| Slovakia | 69.4 | Italy | 19.7 |
| Czechia | 64.6 | Argentina | 17.5 |
| Croatia | 57.1 | Netherlands | 15.7 |
| Bulgaria | 48.6 | Turkey | 15.3 |
| Sweden | 43.6 | Slovenia | 13.6 |
| Austria | 39.9 | Germany | 13.6 |
| Germany | 35.7 | Croatia | 12.9 |
| Australia | 34.7 | Austria | 12.6 |
| USA | 32.9 | Spain | 11.9 |
| Denmark | 28.8 | Iran | 11.8 |
| Serbia | 28.0 | Australia | 11.6 |
| Slovenia | 22.7 | France | 11.5 |
| Argentina | 16.5 | Russia | 10.3 |
| Switzerland | 14.5 | Serbia | 9.3 |
| France | 9.9 | Israel | 9.0 |
| Turkey | 8.8 | USA | 8.6 |
| Israel | 7.1 | Slovakia | 6.8 |
| Brazil | 6.8 | Estonia | 5.4 |
| Italy | 5.7 | Poland | 3.6 |
| Netherlands | 4.5 | Czechia | 2.3 |
| Spain | 4.0 | Denmark | 2.3 |
| Iran | 1.4 | China | 1.6 |
For a total number of patients in each country, see Table S6. The accession number for the PAH is RefSeq: ENSG00000171759; GeneBank: NM_000277.1. Source BIOPKU database.
a
Percentage of subjects (of a total number of patients) with a variant occurring in a compound heterozygous or homozygous constellation.