From: Pathogenic variants in human DNA damage repair genes mostly arose in recent human history
Species (MYAa) | Gene | Shared human DDR PVs | |
---|---|---|---|
cDNA | Protein | ||
Orangutan (15.2) | PMS2 | c.803 + 1G > A | p.(Tyr268*) |
Gibbon (19.5) | TP53 | c.537 T > A | p.(His179Gln) |
 | TP53 | c.489C > A | p.(Tyr163*) |
 | DNA2 | c.593G > A | p.(Arg198His) |
Rhesus (28.8) | ATM | c.3994-159A > G | p.(=) |
 | TP53 | c.887A > G | p.(His296Arg) |
Crab-eating macaque (28.8) | ATM | c.3994-159A > G | p.(=) |
 | FANCA | c.14G > A | p.(Trp5*) |
 | TP53 | c.887A > G | p.(His296Arg) |
Baboon (28.8) | TP53 | c.887A > G | p.(His296Arg) |
 | BRCA1 | c.3122C > G | p.(Ser1041*) |
Green monkey (28.8) | ATM | c.3994-159A > G | p.(=) |
 | BRCA2 | c.9501G > A | p.(=) |
 | FANCA | c.2982-192A > G | p.(=) |
 | TP53 | c.887A > G | p.(His296Arg) |
Marmoset (38) | ATM | c.3994-159A > G | p.(=) |
 | ATM | c.2341C > T | p.(Gln781*) |
 | BRCA2 | c.1642C > T | p.(Gln548*) |
 | MLH1 | c.208-3C > T | p.(=) |
 | TP53 | c.887A > G | p.(His296Arg) |
 | BRCA1 | c.850C > T | p.(Gln284*) |
 | POLK | c.1284G > A | p.(=) |
Squirrel monkey (38) | ATM | c.2341C > T | p.(Gln781*) |
 | BRCA2 | c.1642C > T | p.(Gln548*) |
 | BRCA2 | c.4689G > A | p.(Trp1563*) |
 | FANCA | c.14G > A | p.(Trp5*) |
 | MLH1 | c.208-3C > T | p.(=) |
 | TP53 | c.887A > G | p.(His296Arg) |
 | POLK | c.1284G > A | p.(=) |
Bushbaby (74) | ATM | c.3382C > T | p.(Gln1128*) |
 | BRCA2 | c.2651C > A | p.(Ser884*) |
 | BRCA2 | c.2978G > A | p.(Trp993*) |
 | BRCA2 | c.4689G > A | p.(Trp1563*) |
 | BRCA2 | c.5263G > T | p.(Glu1755*) |
 | BRCA2 | c.5791C > T | p.(Gln1931*) |
 | FANCA | c.3765 + 2C > T | p.(=) |
 | FANCA | c.2504 + 134A > G | p.(=) |
 | FANCA | c.2021C > A | p.(Ser674*) |
 | FANCA | c.1567-20A > G | p.(=) |
 | FANCA | c.683C > G | p.(Ala228Gly) |
 | FANCC | c.1490G > A | p.(Trp497*) |
 | MLH1 | c.208-3C > T | p.(=) |
 | PMS2 | c.1606C > T | p.(Gln536*) |
 | TP53 | c.887A > G | p.(His296Arg) |
 | FANCG | c.346C > T | p.(Gln116*) |
 | POLH | c.2074A > G | p.(Thr692Ala) |
 | BRCA1 | c.4185 + 4105C > T | p.(=) |
 | BRCA1 | c.1058G > A | p.(Trp353*) |
 | POLK | c.1284G > A | p.(=) |
 | POLK | c.2033C > T | p.(Ser678Phe) |
 | RNASEH2B | c.58G > C | p.(Val20Leu) |
 | PALB2 | c.1451 T > A | p.(Leu484*) |
 | PALB2 | c.1675C > T | p.(Gln559*) |