Table 1.
PGP-10 variants with potential functional consequences
| Individual (huID) | No. of nonsyn. single base substitution (nsSNPs) variants | No. of nsSNPs not present in dbSNP132 or ESP5400 | No. of nonsyn. with “probably damaging” Polyphen 2 prediction | No. of variants in PharmGKB or HuGENet | No. of nonsyn. variants in genes with clinical testing (GeneTests) | No. of nonsyn. variants matching OMIM entries | No. of nonsense and frameshift mutations | No. with prioritization score of 4 or more |
| PGP1 (hu43860C) | 7,781 | 4 | 610 | 1,853 | 773 | 34 | 170 | 23 |
| PGP2 (huC30901) | 8,170 | 5 | 618 | 1,747 | 809 | 46 | 148 | 29 |
| PGP3 (huBEDA0B) | 7,899 | 1 | 582 | 1,793 | 780 | 46 | 169 | 35 |
| PGP4 (huE80E3D) | 8,042 | 2 | 606 | 1,820 | 829 | 47 | 147 | 26 |
| PGP5 (hu9385BA) | 8,312 | 1 | 652 | 1,865 | 873 | 53 | 172 | 27 |
| PGP6 (hu04FD18) | 8,008 | 3 | 596 | 1,810 | 832 | 46 | 167 | 29 |
| PGP7 (hu0D879F) | 8,380 | 4 | 649 | 1,917 | 868 | 48 | 167 | 25 |
| PGP8 (huAE6220) | 8,551 | 3 | 694 | 1,879 | 876 | 50 | 157 | 30 |
| PGP9 (hu034DB1) | 7,542 | 2 | 575 | 1,740 | 752 | 41 | 166 | 27 |
| PGP10 (hu604D39) | 9,810 | 2 | 769 | 1,723 | 956 | 42 | 199 | 37 |
| Average | 8,250 | 2.7 | 635 | 1,815 | 835 | 45 | 166 | 29 |
nonsyn., nonsynonymous; nsSNP, nonsynonymous SNP.