Table 3.
Evaluation of candidates for nonfunctional FUT2 alleles by expression of cell surface H antigens or in silico analysis of the nonsynonymous SNP.
| Allele | Expression level (± SD) n = 5 | Luciferase activity ( 106 RLU) (± SD) n = 5 | Rs No | Amino acid change | MutationTester | MutationAssessor (score) | Polyphen2 ( score) | SIFT (score) | Allele |
|---|---|---|---|---|---|---|---|---|---|
| 80T>C; 357C>T | 25.79 (5.43) | 2.33 (0.25) | rs199854717 | M27T | P | N (-0.835) | B ( 0.000) | T (0.16) | Se80,357 |
| 357C>T; 964A>G | 19.57 (2.34) | 2.99 (0.19) | rs546134946 | I322V | D | M (2.990) | P (0.961) | A (0.00) | Se357,964 |
| 357C>T; 539G>A | 23.99 (3.69) | 3.13 (0.11) | rs571045256 | R180Q | P | N (0.620) | B ( 0.026) | T (0.29) | Se357,539 |
| 610G>T | 0.63 (0.36) | 4.45 (0.46) | rs373601796 | G204W | D | M (3.005) | P (1.000) | A (0.00) | se610 |
| 40A>G; 616G>C | 21.32 (2.75) | 3.67 (0.39) | rs146094646 | V206L | P | L (1.680) | B (0.172) | A (0.00) | Se40,616 |
| 357C>T; 715C>T | 20.45 (7.38) | 3.22 (0.39) | rs564523135 | R239W | D | M (2.915) | P (1.000) | A (0.05) | Se357,715 |
| 357C>T; 856T>C; 863C>T | 0.68 (0.27) | 3.02 (0.50) | se357,856,863 | ||||||
| Alleles generated by mutagenesis | |||||||||
| 357C>T; 856T>C | 0.63 (0.28) | 1.53 (0.42) | rs537571802 | Y286H | D | M (3.005) | P (1.000) | A (0.00) | |
| 357C>T; 863C>T | 7.98 (0.55) | 2.31 (0.74) | rs146216418 | T288M | P | L (1.445) | P (0.993) | A (0.00) | |
| 58C>T; 357C>T | 24.31 (3.82) | 2.95 (0.24) | rs201010975 | R20W | P | M (2.915) | P (1.000) | A (0.02) | Se58,357 |
| 566T>C | 9.28 (0.99) | 1.39 (0.35) | rs200698586 | V189A | D | M (3.005) | P (1.000) | A (0.00) | Se566 |
| 357C>T; 980C>A | 20.32 (2.06) | 1.40 (0.27) | rs139058715 | S327Y | P | M (1.995) | P (0.989) | A (0.00) | Se357,980 |
| 205G>A; 357C>T | 19.27 (9.62) | 2.19 (0.11) | rs143120145 | A69T | D | M (3.005) | P (1.000) | A (0.00) | Se205,357 |
| 357C>T; 542C>T | 21.69 (1.50) | 1.75 (0.23) | rs138954645 | P181L | D | M (2.810) | P (0.973) | A (0.00) | Se357,542 |
| 262A>C; 357C>T | 2.03 (0.43) | 2.58 (0.53) | rs532253708 | M88L | P | M (3.005) | P (0.988) | A (0.00) | se262,357(Sew) |
Luciferase activities are presented by Relative Light Unit (RLU). P and D represent polymorphism and disease-causing, respectively (MutationTester). N, M, and L represent neutral, medium and low, respectively (MutationAssessor). B and P represent benign and probably damaging, respectively (Polyphen2). T and A represent tolerated and affect protein function, respectively (SIFT).