Table 2.
The single nucleotide polymorphisms (SNPs) identified in the population after FUT2 and FUT3 exome sequencing.
| SNP | CHR | chrpos | MAF | Function | Allele | AA change | Position in protein | Affect secretor/Lewis status |
|---|---|---|---|---|---|---|---|---|
| rs3894326 | FUT3 | 5843773 | 0.07895 | Mis. | A>C/T | I>K | 356 | Yes |
| rs28362465 | FUT3 | 5844228 | 0.01316 | Syn. | T>C/G | S>S | NA | No |
| rs3745635 | FUT3 | 5844332 | 0.02961 | Mis. | G/A | G>S | 170 | Yes |
| rs778986 | FUT3 | 5844526 | 0.1908 | Mis. | A>G | T>M | 105 | Yes |
| rs812936 | FUT3 | 5844638 | 0.2007 | Mis. | G>A/C | W>R/G | 68 | Yes |
| rs28362459 | FUT3 | 5844781 | 0.125 | Mis. | A>C/G/T | L>R | 20 | Yes |
| rs145362171 | FUT3 | 5844793 | 0.01645 | Mis. | C>G | C>S | 16 | NA |
| rs516316 | FUT2 | 48702888 | 0.3553 | IV | G>C | NA | NA | NA |
| rs516246 | FUT2 | 48702915 | 0.3553 | IV | C>T | NA | NA | NA |
| rs492602 | FUT2 | 48703160 | 0.352 | Syn. | A>G | A>A | 68 | No |
| rs681343 | FUT2 | 48703205 | 0.3553 | SG | C>A/T | Tyr | 83 | Yes |
| rs281377 | FUT2 | 48703346 | 0.4507 | Syn. | C>T | N>N | 130 | No |
| rs1800022 | FUT2 | 48703368 | 0.01645 | Mis. | C>T | R>C | 138 | No |
| rs601338 | FUT2 | 48703417 | 0.3553 | SG | G>A | W>*Ter | 154 | Yes |
| rs1800027 | FUT2 | 48703469 | 0.102 | Mis. | C>G/T | H>Q | 171 | Yes |
| rs602662 | FUT2 | 48703728 | 0.4046 | Mis. | G>A | G>S | 258 | Yes |
| rs141630650 | FUT2 | 48703844 | 0.02303 | Syn. | A>A | A>A | 296 | No |
| rs485186 | FUT2 | 48703949 | 0.4046 | Syn. | A>G | T>T | 331 | Yes |
| rs485073 | FUT2 | 48703998 | 0.4046 | 3UV | A>G | NA | NA | NA |
| rs603985 | FUT2 | 48704000 | 0.4046 | 3UV | T>C | NA | NA | NA |
chr, chromosome; chrpos, chromosome position; MAF, Minor Allele Frequency; AA, amino acid; Mis, missense; Syn, synonymous; NA, not analyzed; IV, intron variant; SG, stop gain variant; Ter, termination; FUT2/3, Fucosyltransferase 2/3; 3UV, 3' Untranslated region.