Table 3.
rs number | Exon | Positiona | Nucleotide substitution | Amino acid | Minor Allele Frequency | |
---|---|---|---|---|---|---|
wt | variant | |||||
rs1805066 | Exon4 | 733 | gtc - atc | Val 245 | Ile | 1/182 (0.005) |
- | Exon 5 | 848 | acg - atg | Thr283 | Met | 1/182 (0.005) |
rs1805068 | Exon 6 | 955 | ttg - ctg | Leu 319 | 4/182 (0.022) | |
rs5569 | Exon 9 | 1287 | acg - aca | Thr429 | 40/182 (0.22) |
Nucleotide positions are designated from the coding sequence of hNET, with the first coding nucleotide designated as 1.