Nonsynonymous single nucleotide polymorphisms in hNET gene Subset of identified hNET variants evaluated in the present study. Nucleotide positions are from GenBank accession numbers X91117 to X91127. Exon and intron numbers reflect the revised structure of the hNET gene following identification of a new exon 1 (Kim et al., 1999).
| Gene Position | Nucleotide | Protein Position | Amino Acid Variant | Frequency | Reference | ||
|---|---|---|---|---|---|---|---|
| Major | Position | Minor | |||||
| Exon 3 | G299A | IL1 | Arg | 121 | Gln | G = 0.995, A = 0.005 | Iwasa et al., 2001 |
| Exon 5 | G223A | TM4 | Val | 244 | Ile | G = 0.99, A = 0.01 | Blakely Lab |
| Exon 6 | A258C | EL3 | Asn | 292 | Thr | A = 0.90, C = 0.10 | Halushka et al., 1999 |
| Exon 8 | G193C | TM7 | Val | 356 | Leu | G = 0.90, C = 0.10 | Halushka et al., 1999 |
| Exon 8 | G232C | EL4 | Ala | 369 | Pro | G = 0.95, C = 0.05 | Halushka et al., 1999 |
| Exon 8 | A251G | EL4 | Asn | 375 | Ser | A = 0.90, G = 0.10 | Halushka et al., 1999 |
| Exon 10 | A256G | EL5 | Lys | 463 | Arg | A = 0.90, G = 0.10 | Halushka et al., 1999 |
| Exon 12 | T233G | TM11 | Phe | 528 | Cys | T = 0.90, G = 0.10 | Halushka et al., 1999 |
| Exon 13 | T776C | EL6 | Tyr | 548 | His | T = 0.90, G = 0.10 | Halushka et al., 1999 |
| Exon 13 | T780C | EL6 | Ile | 549 | Thr | T = 0.99, C = 0.03 | dbSNP |
IL, intracellular loop; EL, extracellular loop; TM, transmembrane domain (as predicted by Pacholczyk et al., 1991).