Table 1 Characteristics of selected POLQ SNPs
SNP ID | Region | Protein domain | Mutation type | Aminoacid change | Possible functional effect |
|---|---|---|---|---|---|
rs587553 | -1060 | Putative TFBS* | |||
rs13065220 | -190 | Putative TFBS* | |||
rs3806614 | -323 | Putative TFBS* | |||
rs11713643 | intron 1 | TagSNP | Tags 23 of 56 SNPs listed at SNP info | ||
rs41545723 | Exon 4 | helicase | missense | Leu197Arg | possibly damaging** |
rs61757736 | Exon 6 | helicase | missense | Ser305Ala | possibly damaging** |
rs55748151 | Exon 6 | helicase | missense | Val310Gly | possibly damaging** |
rs3218651 | Exon 16 | central | missense | His1201Arg | possibly damaging** |
rs1381057 | Exon 28 | polymerase | missense | Gly2513Arg | possibly damaging** |