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Serotonin 5-HT2 Receptors: Molecular and Genomic Diversity
Table 1.
Frequency and Distribution of SNPs
| Nucleotide Substitution | Nucleotide Position | Amino Acid Substitution | Domain | Minor Allele Frequency | Reference |
|---|---|---|---|---|---|
| *These polymorphisms have been reported in the literature as -1438 and -1273, respectively. However, subsequent cloning of the promoter (Celera, HGP) has proven this numbering to be inaccurate due to sequencing errors in the first published cloning. The correctly numbered SNPs are -1437 and -1272; all other promoter SNPs are numbered based upon the Celera sequence. **Sequence analysis determined that Meyer’s (GT)12–18 repeat (47) was identical to Yuan’s (GT)n repeat (46) and thus could be assigned the same numeric value of 1,027. Located 54 nucleotides downstream of this (GT)n was the previously reported (CT)4–5 ; a location, but not a common allele, was assigned based upon proximity to 1,027. NT, N terminus; TM4, transmembrane 4; CT, C terminus; UTR, untranslated region. | |||||
| 5-HT2A Receptor | |||||
| [A/G] | -1438* | - | basal promoter | 50% | (41) |
| [C/T] | -1420 | - | basal promoter | 5-15% | (34) |
| [A/G] | -1273* | - | basal promoter | <5% | (34) |
| [A/G] | -1182 | - | basal promoter | <5% | (34) |
| [A/G] | -783 | - | high promoter activity | 5-15% | (34) |
| [G/A] | -561 | - | promoter repressor | <5% | (34) |
| [C/T] | -559 | - | promoter repressor | <5% | (34) |
| [G/A] | -400 | - | promoter repressor | <5% | (34) |
| [A/G] | -311 | - | promoter repressor | <5% | (34) |
| [T/C] | 102 | - | silent | 50% | (52) |
| [C/T] | 516 | - | silent | <5% | (53) |
| A[C/A] C | 74 | T25N | NT | 1% | (54) |
| C[A/G ]T | 589 | I197V | TM4 | 1% | (34) |
| T[C/T] T | 1262 | S421F | CT | No data | (55) |
| G[C/T] T | 1340 | A447V | CT | 1% | (56) |
| G[C/T] A | 1354 | H452Y | CT | 10% | (54) |
| 5-HT2A Receptor | |||||
| (GT) n | -1,027 | - | Between two NF-IL6 binding sites | Major: (GT)17 | (46) |
| [G/A] | -995 | - | Between two NF-IL6 binding sites | 11% | (46) |
| [C/T] | -759 | - | Proximal to LF-A1 binding site | 11% | (46) |
| [G/C] | -697 | - | Between -703 and -692 transcription initiation sites | 15% | (46) |
| (GT) 12-18 | -1,027** | - | See (GT)n above | - | (47) |
| (CT) 4-5 | -963** | - | Proximal to NF-IL6 binding site | - | (47) |
| T[G/C] G | 62 | C23S | NT | 13% | (49) |
| [T/G] | 2831 | - | 3′ UTR | 10% | (57) |
