Table 1.
Population | p.Arg508Ser |
p.Ser204Leu |
p.Arg490Trp |
p.Arg543His |
||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Allele |
Allele |
allele |
allele |
|||||||||
Count | num. | freq. | count | num. | freq. | count | num. | freq. | count | num. | freq. | |
Ashkenazi Jewish | 29 | 10,036 | 0.00289 | 0 | 10,168 | 0 | 0 | 10,326 | 0 | 0 | 10,268 | 0 |
European (non-Finnish) | 136 | 124,560 | 0.001092 | 7 | 124,038 | 0.0000564 | 0 | 128,000 | 0 | 0 | 125,522 | 0 |
European (Finnish) | 1 | 23,762 | 0.0000421 | 84 | 24,870 | 0.003378 | 0 | 24,992 | 0 | 0 | 21,320 | 0 |
African/African American | 2 | 23,348 | 0.0000857 | 0 | 23,748 | 0 | 2 | 24,130 | 0.0000829 | 15 | 23,982 | 0.0006255 |
Latino/admixed American | 22 | 34,648 | 0.000635 | 0 | 35,250 | 0 | 0 | 35,346 | 0 | 0 | 35,236 | 0 |
East Asian | 1 | 19,204 | 0.0000521 | 0 | 19,486 | 0 | 31 | 19,514 | 0.001589 | 0 | 19,490 | 0 |
South Asian | 34 | 29,398 | 0.001157 | 0 | 30,506 | 0 | 1 | 30,600 | 0.0000328 | 1 | 30,534 | 0.0000327 |
Other | 14 | 6,904 | 0.002028 | 0 | 7,058 | 0 | 0 | 7,128 | 0 | 0 | 7,052 | 0 |
XX | 91 | 123,556 | 0.0007365 | 44 | 124,658 | 0.000353 | 17 | 127,538 | 0.0001333 | 9 | 123,862 | 0.0000727 |
XY | 148 | 148,304 | 0.000998 | 47 | 150,466 | 0.0003124 | 17 | 152,498 | 0.0001115 | 7 | 149,542 | 0.0000468 |
Total | 239 | 271,860 | 0.0008791 | 91 | 275,124 | 0.0003308 | 34 | 280,036 | 0.0001214 | 16 | 273,404 | 0.0000585 |
The list displays population-based allele frequencies of RABEP2-coding variants. While one (p.Arg508Ser) is widely distributed across populations, p.Ser204Leu, p.Arg490Trp, or p.Arg543His exclusively segregate in the European, East Asian, or African/African American populations, respectively.