Table 3. Summary of the nonsynonymous SNPs showing a deleterious effect on the protein’s function by in silico prediction analysis.
| nsSNP | rs7970885 | rs1044032 | rs41481648 |
|---|---|---|---|
| Gene | OR10P1 | SQRDL | NLRP8 |
| Gene ID | 121130 | 58472 | 609659 |
| Gene description | olfactory receptor, family 10, subfamily P, member 1 | sulfide quinone reductase-like (yeast) | NLR family, pyrin domain containing 8 |
| mRNA | |||
| Genbank No. | NM_206899.1 | NM_021199.3 | NM_176811.2 |
| cDNA position | 598 | 791 | 1951 |
| Nucleotide change | GTG > ATG | ATT > ACT | CGG > TGG |
| Protein | |||
| Genbank No. | NP_996782.1 | NP_067022.1 | NP_789781.2 |
| Position | 200 | 264 | 651 |
| Amino acid change | V [Val] > M [Met] | I [Ile] > T [Thr] | R [Arg] > W [Trp] |
| Minor allele frequency | |||
| KARE controls | 0.319 | 0.490 | 0.091 |
| European | 0.385 | 0.195 | 0.063 |
| Han-Chinese | 0.314 | 0.465 | 0.047 |
| Japanese | 0.192 | 0.453 | 0.047 |
| Sub-Saharan African | 0.093 | 0.124 | 0.142 |
| Protein damage prediction | |||
| SIFT | Tolerated | Damaging | Damaging |
| PloyPhen-2 | Possibly Damaging | Benign | Probably Damaging |
Minor allele frequencies were obtained from the NCBI dbSNP database (http://www.ncbi.nlm.nih.gov). Abbreviations: KARE, Korea Association Resource cohort; PolyPhen-2, Polymorphism Phenotyping v2; and SIFT, Sorting Intolerant From Tolerant