Table 5 CHEK2 pathogenic variants identified in ancient humans
From: Pathogenic variants in human DNA damage repair genes mostly arose in recent human history
Time (BP) | Variants | dbSNP155 | Position | Variation type | Ancient carriers | ||
|---|---|---|---|---|---|---|---|
HGVSc | HGVSp | Location | Number | ||||
32,823 | c.409C > T | p.(Arg137*) | rs730881701 | exonic | stopgain | Russia, Italy | 2 |
10,000 | c.1375 + 1G > A | p.(=) | rs759706360 | splicing | – | Brazil | 1 |
8315 | c.433C > T | p.(Arg145Trp) | rs137853007 | exonic | nonsynonymous | Turkey, Sudan, China | 3 |
7963 | c.31C > T | p.(Gln11*) | rs1349961118 | exonic | stopgain | Ukrayina, Mongolia | 2 |
7480 | c.291G > A | p.(Trp97*) | rs2054312626 | exonic | stopgain | Finland, Mongolia | 2 |
6856 | c.1297C > T | p.(Gln433*) | rs1555913494 | exonic | stopgain | Russia | 1 |
6713 | c.319 + 1G > A | p.(=) | rs765080766 | splicing | – | Russia, Ukraine | 2 |
6415 | c.205C > T | p.(Gln69*) | rs768384031 | exonic | stopgain | Chile | 1 |
6386 | c.625C > T | p.(Gln209*) | rs1569149953 | exonic | stopgain | Russia, Croatia | 2 |
6238 | c.683 + 1G > A | p.(=) | rs786203650 | splicing | – | Russia | 1 |
4503 | c.1315C > T | p.(Gln439*) | rs778989252 | exonic | stopgain | Russia | 1 |
4498 | c.100C > T | p.(Gln34*) | rs1231012263 | exonic | stopgain | China | 1 |
4462 | c.1555C > T | p.(Arg519*) | rs200432447 | exonic | stopgain | Mongolia, China | 2 |
4272 | c.279G > A | p.(Trp93*) | rs587782070 | exonic | stopgain | Russia | 1 |
3681 | c.1461 + 2 T > C | p.(=) | rs779844113 | splicing | – | Denmark | 1 |
3626 | c.232C > T | p.(Gln78*) | rs1555932341 | exonic | stopgain | Russia | 1 |
3556 | c.151C > T | p.(Gln51*) | rs587781592 | exonic | stopgain | Sweden | 1 |
3435 | c.283C > T | p.(Arg95*) | rs587781269 | exonic | stopgain | Turkey, Russia, Czech, China | 4 |
3328 | c.1095 + 1G > A | p.(=) | rs768172525 | splicing | – | Turkey, Russia | 2 |
3000 | c.908 + 2 T > C | p.(=) | rs1601752066 | splicing | – | Russia | 1 |
2064 | c.592 + 1G > A | p.(=) | rs1601822722 | splicing | – | Turkey, Russia | 2 |
1988 | c.1528C > T | p.(Gln510*) | rs886039512 | exonic | stopgain | Russia | 1 |
1646 | c.85C > T | p.(Gln29*) | rs761494650 | exonic | stopgain | Turkey, Russia | 2 |
450 | c.341G > A | p.(Trp114*) | rs1555927374 | exonic | stopgain | Turkey | 1 |
372 | c.1050del | p.(Glu351Argfs*14) | rs2052610542 | exonic | deletion | Italy | 1 |
NA | c.79C > T | p.(Gln27*) | rs376736188 | exonic | stopgain | Turkey | 1 |
NA | c.1009-1G > A | p.(=) | rs1555914382 | splicing | – | Turkey | 1 |
NA | c.1486C > T | p.(Gln496*) | rs756250205 | exonic | stopgain | Turkey | 1 |