TABLE 1.
Single nucleotide polymorphisms (SNPs) with an amino acid substitution in human TAS1R1, TAS1R3, GRM1, and 1
| Genes | Position amino acid | dbSNP rs no. | Nucle- otide | Amino acid encoded | Domain | ||||||||||||||
| Population-specific allele frequency | |||||||||||||||||||
| Reference 33 |
HapMap |
AGI |
|||||||||||||||||
| CAM | AME | NOR | JAP | RUS | HUN | CH | PAK | CEU | HCB | JPT | YRI | ASP | CEPH | ||||||
| TAS1R1 | |||||||||||||||||||
| NM_138697 | |||||||||||||||||||
| Exon 1 | 42 | rs35375392 | A | Tyr | EC | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| G | Cys | — | — | — | — | — | — | — | — | — | — | — | — | — | — | ||||
| Exon 2 | 952 | A | Asn | EC | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0.94 | — | — | — | — | — | — | |
| G | Ser | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.06 | — | — | — | — | — | — | ||||
| 1102,3 | rs41278020 | T | Val | EC | 1 | 1 | 0.95 | 1 | 1 | 1 | 1 | 1 | — | — | — | — | — | — | |
| C | Ala | 0 | 0 | 0.05 | 0 | 0 | 0 | 0 | 0 | — | — | — | — | — | — | ||||
| 1263 | C | His | EC | 0.95 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | — | — | — | — | — | — | ||
| A | Asn | 0.05 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | — | — | — | — | — | — | ||||
| 1273 | T | Ile | EC | 1 | 1 | 1 | 1 | 1 | 1 | 0.85 | 1 | — | — | — | — | — | — | ||
| T | Thr | 0 | 0 | 0 | 0 | 0 | 0 | 0.15 | 0 | — | — | — | — | — | — | ||||
| Exon 3 | 1813 | C | Gln | EC | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | — | — | — | — | — | — | |
| G | Glu | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | — | — | — | — | — | — | ||||
| 1823 | A | Tyr | EC | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0.94 | — | — | — | — | — | — | ||
| G | Cys | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.06 | — | — | — | — | — | — | ||||
| 1913 | A | Asn | EC | 1 | 1 | 1 | 1 | 1 | 1 | 0.8 | 1 | — | — | — | — | — | — | ||
| G | Ser | 0 | 0 | 0 | 0 | 0 | 0 | 0.2 | 0 | — | — | — | — | — | — | ||||
| 2373 | A | Ile | EC | 1 | 1 | 1 | 1 | 1 | 1 | 0.85 | 1 | — | — | — | — | — | — | ||
| C | Leu | 0 | 0 | 0 | 0 | 0 | 0 | 0.15 | 0 | — | — | — | — | — | — | ||||
| 3472ndash4 | rs10864628 | G | Glu | EC | 0.78 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0.71 | 0.93 | — | |
| A | Lys | 0.23 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.29 | 0.07 | — | ||||
| 3562 | rs41307749 | G | Cys | EC | — | — | — | — | — | — | — | — | — | — | — | — | — | — | |
| C | Ser | — | — | — | — | — | — | — | — | — | — | — | — | — | — | ||||
| 3722ndash4 | rs34160967 | G | Ala | EC | 0.9 | 1 | 0.75 | 0.65 | 0.95 | 0.65 | 0.6 | 0.94 | 0.88 | 0.66 | 0.64 | 0.97 | 0.93 | — | |
| A | Thr | 0.1 | 0 | 0.25 | 0.35 | 0.05 | 0.35 | 0.4 | 0.06 | 0.12 | 0.34 | 0.36 | 0.03 | 0.07 | — | ||||
| 3733 | C | His | EC | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | — | — | — | — | — | — | ||
| A | Asn | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | — | — | — | — | — | — | ||||
| Exon 4 | 4833 | T | Ile | EC | 0.95 | 1 | 1 | 1 | 1 | 1 | 0.85 | 1 | — | — | — | — | — | — | |
| C | Thr | 0.05 | 0 | 0 | 0 | 0 | 0 | 0.15 | 0 | — | — | — | — | — | — | ||||
| Exon 5 | 5072,4 | rs35118458 | G | Arg | CD | — | — | — | — | — | — | — | — | 0.97 | 1 | 1 | 1 | 0.97 | — |
| A | Gln | — | — | — | — | — | — | — | — | 0.03 | 0 | 0 | 0 | 0.03 | — | ||||
| Exon 6 | 6032,3 | rs41278022 | T | Cys | TM | 0.88 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | — | — | — | — | — | — |
| C | Arg | 0.12 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | — | — | — | — | — | — | ||||
| 7733 | G | Trp | TM | 0.94 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | — | — | — | — | — | — | ||
| A | Stop | 0.06 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | — | — | — | — | — | — | ||||
| TAS1R3 | |||||||||||||||||||
| NM_152228 | |||||||||||||||||||
| Exon 1 | 53 | G | Ala | EC | 1 | 1 | 0.9 | 1 | 1 | 0.95 | 1 | 1 | — | — | — | — | — | — | |
| A | Thr | 0 | 0 | 0.1 | 0 | 0 | 0.05 | 0 | 0 | — | — | — | — | — | — | ||||
| Exon 2 | 953 | T | Leu | EC | 0.98 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | — | — | — | — | — | — | |
| C | Pro | 0.02 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | — | — | — | — | — | — | ||||
| Exon 3 | 2473 | G | Arg | EC | 0.75 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | — | — | — | — | — | — | |
| A | His | 0.25 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | — | — | — | — | — | — | ||||
| 3673 | G | Gly | EC | 0.95 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | — | — | — | — | — | — | ||
| T | Cys | 0.05 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | — | — | — | — | — | — | ||||
| Exon 6 | 7353 | G | Ala | TM | 0.75 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | — | — | — | — | — | — | |
| A | Thr | 0.25 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | — | — | — | — | — | — | ||||
| 7572ndash4 | rs307377 | T | Cys | TM | 1 | 1 | 1 | 1 | 1 | 0.95 | 1 | 0.94 | — | — | — | — | — | 0.92 | |
| C | Arg | 0 | 0 | 0 | 0 | 0 | 0.05 | 0 | 0.06 | — | — | — | — | — | 0.08 | ||||
| 8132 | rs34810828 | A | Lys | TM | — | — | — | — | — | — | — | — | — | — | — | — | — | — | |
| G | Arg | — | — | — | — | — | — | — | — | — | — | — | — | — | — | ||||
| 8162 | rs12030791 | G | Val | TM | — | — | — | — | — | — | — | — | — | — | — | — | — | — | |
| C | Leu | — | — | — | — | — | — | — | — | — | — | — | — | — | — | ||||
| 8232 | rs12030797 | T | Phe | IC | — | — | — | — | — | — | — | — | — | — | — | — | — | — | |
| C | Leu | — | — | — | — | — | — | — | — | — | — | — | — | — | — | ||||
| 8322 | rs35913253 | A | Arg | IC | — | — | — | — | — | — | — | — | — | — | — | — | — | — | |
| G | Gly | — | — | — | — | — | — | — | — | — | — | — | — | — | — | ||||
| GRM1 | |||||||||||||||||||
| NM_000838 | |||||||||||||||||||
| Exon 1 | 342 | rs12190109 | A | Tyr | EC | — | — | — | — | — | — | — | — | — | — | — | — | — | — |
| C | Ser | — | — | — | — | — | — | — | — | — | — | — | — | — | — | ||||
| Exon 2 | 2852,4 | rs7760248 | G | Arg | EC | — | — | — | — | — | — | — | — | 1 | 1 | 1 | 0.98 | — | — |
| A | Lys | — | — | — | — | — | — | — | — | 0 | 0 | 0 | 0.02 | — | — | ||||
| Exon 7 | 5932,4 | rs1047005 | T | Ser | EC | — | — | — | — | — | — | — | — | 1 | 1 | 0.99 | 1 | — | — |
| C | Pro | — | — | — | — | — | — | — | — | 0 | 0 | 0.01 | 0 | — | — | ||||
| 7292 | rs41305288 | A | Thr | TM | — | — | — | — | — | — | — | — | — | — | — | — | — | — | |
| C | Pro | — | — | — | — | — | — | — | — | — | — | — | — | — | — | ||||
| 7412 | rs3025919 | T | Asp | TM | — | — | — | — | — | — | — | — | — | — | — | — | — | — | |
| A | Glu | — | — | — | — | — | — | — | — | — | — | — | — | — | — | ||||
| 8842,4 | rs362936 | G | Gly | IC | — | — | — | — | — | — | — | — | 0.97 | 1 | 1 | 1 | — | — | |
| A | Glu | — | — | — | — | — | — | — | — | 0.03 | 0 | 0 | 0 | — | — | ||||
| Exon 8 | 9292,4 | rs2941 | G | Val | IC | — | — | — | — | — | — | — | — | 0.93 | 0.99 | 1 | 1 | — | — |
| A | Ile | — | — | — | — | — | — | — | — | 0.07 | 0.01 | 0 | 0 | — | — | ||||
| 9932,4 | rs6923492 | C | Pro | IC | — | — | — | — | — | — | — | — | 0.56 | 0.48 | 0.52 | 0.69 | — | — | |
| T | Ser | — | — | — | — | — | — | — | — | 0.44 | 0.52 | 0.48 | 0.31 | — | — | ||||
| GRM4 | |||||||||||||||||||
| NM_000841 | |||||||||||||||||||
| Exon 1 | 1692,4 | rs452752 | C | Leu | EC | — | — | — | — | — | — | — | — | 1 | 1 | 0.99 | 1 | — | — |
| T | Phe | — | — | — | — | — | — | — | — | 0 | 0 | 0.01 | 0 | — | — | ||||
dbSNP, Single Nucleotide Polymorphism database (http://www.ncbi.nlm.nih.gov/); EC, extracellular; TM, transmembrane; IC, intracellular; CAM, Cameroonian (n = 20); AME, Amerindian (n = 10); NOR, Northern European (n = 10); JAP, Japanese (n = 10); RUS, Russian (n = 10); HUN, Hungarian (n = 10); CH, Chinese (n = 10); PAK, Pakistani (n = 8); CEU, European [30 mother-father-child trios from the Centre d'Etude du Polymorphisme Human (CEPH) collection (Utah residents with ancestry from northern and Western Europe)]; HCB, Asian: 45 unrelated Han Chinese in Beijing, China; JPT, Asian: 44 unrelated Japanese in Tokyo; AGI, The Applera Genomics Initiative (http://www.applera.com/); YRI, sub-Saharan African: 30 Yoruba mother-father-child trios in Ibadan, Nigeria; ASP, African American: population samples from Coriell Cell Repositories Apparently Normal Collection; CEPH, genomic DNA samples were obtained for a panel of 92 unrelated individuals chosen from CEPH pedigrees [the genomic DNA comprised Utah (93%), French (4%), and Venezuelan (3%)].
From dbSNP.
From reference 33.
From the International HapMap Project (http://www.hapmap.org/index.html.en).