Table 5.
SIFT and PolyPhen2 functional predictions of SNP markers.
| SNP ID | Allele | Amino acid position | SIFT | PolyPhen2 | |||
|---|---|---|---|---|---|---|---|
| Score | Prediction | Confidence | Score | Prediction | |||
| rs1048943 | T>C | p.I462V | 0.16 | Tolerated | High | 0.18 | Benign |
| rs4646903 | A>G | NA∗ | — | — | — | — | — |
| rs1042522 | G>C | p.P72A | 0.16 | Tolerated | High | 0.265 | Possibly damaging |
| rs1801133 | C>T | p.A222V | 0.03 | Damaging | High | 0.235 | Possibly damaging |
| rs1801394 | A>G | p.I22M | 0.01 | Damaging | High | 0.962 | Possibly damaging |
SIFT, Sorting Intolerant From Tolerant (http://sift.jcvi.org/); PolyPhen2, Polymorphism phenotyping (http://genetics.bwh.harvard.edu/pph2/).
∗NA: not applicable as it is in the noncoding 3′ flanking untranslated region. Low confidence means that the protein alignment does not have enough sequence diversity. Because the position artificially appears to be conserved, an amino acid may incorrectly be predicted to be damaging.