Table 1.
Summary of candidates for nonfunctional FUT1 alleles, their attribution, and evaluation by expression of cell surface H antigens or in silico analyses.
| Allele | Expression study (n = 4) | Rs no | Amino acid change | Mutation tester | Mutation assessor (score) | Polyphen2 (score) | SIFT (score) | Coriell no | Attribution | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| level (SD) | p vs PC | p vs NC | |||||||||
| c.20G>C | 23.9 (7.9) | NS | < 0.001 | rs150995632 | p.R7P | P | L (1.935) | Probably damaging (0.995) | A (0.01) | NA19019 NA19042 | Kenya |
| c.101A>G | 26.5 (5.4) | NS | < 0.001 | rs200808269 | p.H34R | P | L (1.1) | Benign (0.144) | A (0.04) | HG00118 | England |
| c.181G>A | 28.3 (4.9) | NS | < 0.001 | rs568231109 | p.A61T | P | N (− 0.69) | Benign (0.000) | T (0.96) |
HG04185 NA20887 |
Bangladesh Texas (Gujarati) |
|
c.35C>T c.220C>T |
28.7 (3.2) | NS | < 0.001 | rs556306430 | p.P74S | P | L (0.99) | Benign (0.002) | T (0.41) |
NA20847 NA21104 |
Texas (Gujarati) Texas (Gujarati) |
| c.229C>G | 27.6 (5.3) | NS | < 0.001 | rs148719736 | p.L77V | P | L (1.225) | Benign (0.039) | T (0.08) | NA20289NA20341 |
USA (African) USA (African) |
| c.283C>G | 25.5 (5.7) | NS | < 0.001 | rs527278015 | p.Q95E | P | L (1.21) | Probably damaging (0.99) | T (1.00) | HG02870 | Gambia |
| c.468C>G | 27.7 (4.8) | NS | < 0.001 | rs543513600 | p.D156E | P | N (0.345) | Benign (0.196) | T (0.06) | HG01443 | Colombia |
| c.503C>G | 0.4 (0.2) | < 0.001 | NS | rs531738794 | p.P168R | D | M (3.245) | Probably damaging (1.000) | A (0.00) | HG02789 | Pakistan |
|
c.35C>T c.530T>G |
24.9 (4.9) | NS | < 0.001 | rs564415152 | p.L177R | P | M (2.97) | Probably damaging (0.994) | A (0.00) | HG01577 | Peru |
| c.565G>C | 27.6 (3.9) | NS | < 0.001 | rs182456777 | p.D189H | P | M (2.83) | Probably damaging (0.996) | A (0.02) | HG01456 | Colombia |
| c.607C>T | 27.4 (5.7) | NS | < 0.001 | rs572327966 | p.R203C | P | M (3.03) | Benign (0.403) | A (0.00) | HG01610 | Spain |
| c.625G>A | 24.7 (5.2) | NS | < 0.001 | rs199502509 | p.D209N | P | N (0.69) | Benign (0.001) | T (0.18) | NA18610 | China |
|
c.35C>T c.649G>A |
25.4 (1.6) | NS | < 0.001 | rs541722036 | p.V217I | D | M (2.37) | Probably damaging (1.000) | A (0.00) | HG02003 | Peru |
| c.691C>T | 19.2 (6.7) | 0.044 | 0.002 | rs556345040 | p.R231C | P | M (2.28) | Probably damaging (1.000) | T (0.09) | HG01435 | Colombia |
| c.725T>G | 0.4 (0.3) | < 0.001 | NS | rs28934588 | p.L242R | D | M (3.215) | Probably damaging (1.000) | A (0.00) |
HG04189 HG03919 HG02733 |
Bangladesh Bangladesh Pakistan |
| c.749G>C | 0.5 (0.2) | < 0.001 | NS | rs558351055 | p.R250P | D | M (2.91) | Probably damaging (1.000) | A (0.00) | NA21128 | Texas (Gujarati) |
| c.796G>C | 24.7 (4.6) | NS | > 0.001 | rs200471232 | p.E266Q | P | L (1.59) | Possibly damaging (0.571) | T (0.42) | HG01440 | Colombia |
| c.799T>C | 2.4 (0.9) | < 0.001 | 0.011 | rs202018483 | p.W267R | D | M (2.97) | Probably damaging (0.957) | A (0.00) | NA19095 | Nigeria |
| c.800G>C | 10.0 (1.5) | < 0.001 | < 0.001 | rs548079884 | p.W267S | D | M (3.32) | Probably damaging (1.000) | A (0.00) | HG01516 | Spain |
| c.1013T>A | 18.8 (5.0) | 0.016 | < 0.001 | rs200387099 | p.I338N | D | M (2.745) | Probably damaging (0.986) | A (0.00) | NA12155 | Utah |
| c.1022C>T | 19.9 (3.4) | 0.009 | < 0.001 | rs146216905 | p.P341L | P | M (3.17) | Probably damaging (1.000) | A (0.00) | HG01776 | Spain |
| c.1064A>G | 20.8 (6.7) | NS | < 0.001 | rs542146224 | p.D355G | D | M (2.725) | Possibly damaging (0.791) | A (0.02) | HG03367 | Nigeria |
| c.1096T>C | 27.5 (4.5) | NS | < 0.001 | rs562758691 | Plus 10 amino acids | – | – | – | – | NA21141 | Texas (Indian) |
p vs. PC: p value relative to the expression level of positive control (the wild-type allele, FUT1*01, 28.7 ± 3.2%); p vs. NC: p value relative to the expression of the negative control (pcDNA3.1(+) without FUT1 insert, 0.7 ± 0.2%). NS not significant (p > 0.05). P and D represent polymorphism and disease-causing, respectively (MutationTester). N, M, and L represent neutral, medium and low, respectively (MutationAssessor). T and A represent tolerated and affected protein function, respectively (SIFT). In silico analyses were not applicable for 1096T>C as it occurred on T of termination codon TGA.