NT5E polymorphisms
NT5E polymorphism locations, alterations in nucleotide and amino acid sequences, and frequencies of polymorphisms observed are listed for each of the three ethnic groups studied. If a polymorphism had already been deposited in a public database (dbSNP or HapMap), an rs number is indicated. All other polymorphisms listed are unique to this study. Polymorphisms within exons are in italics. The numbering scheme for nucleotide positions is based on assignment of the (+1) position to the A in the translation initiation codon, with nucleotides 5′ to that position assigned negative numbers and those 3′ within the cDNA assigned positive numbers. IVS is intervening sequence (intron). Nucleotide positions in introns are numbered from the nearest splice site, with distances from 3′ splice junctions assigned positive numbers and distances from 5′ splice junctions assigned negative numbers.
| Location | Nucleotide | Sequence Change | Amino Acid | Frequency of Variant Allele | RefSNP Identification | ||
|---|---|---|---|---|---|---|---|
| AA | EA | HCA | |||||
| 5′-FR | −1855 | A→G | 0.000 | 0.000 | 0.005 | ||
| 5′-FR | −1698 | T→G | 0.279 | 0.137 | 0.068 | rs4463232 | |
| 5′-FR | −1570 | T→G | 0.000 | 0.000 | 0.005 | ||
| 5′-FR | −1551 | A→T | 0.000 | 0.000 | 0.010 | ||
| 5′-FR | −1516 | G→A | 0.374 | 0.137 | 0.068 | rs9450278 | |
| 5′-FR | −1440 | C→T | 0.371 | 0.137 | 0.063 | rs4599602 | |
| 5′-FR | −1431 | deletion of GTTAA | 0.231 | 0.574 | 0.255 | rs10565593 | |
| 5′-FR | −1407 | A→G | 0.032 | 0.000 | 0.000 | ||
| 5′-FR | −1368 | T→C | 0.005 | 0.000 | 0.000 | ||
| 5′-FR | −1364 | G→A | 0.005 | 0.000 | 0.000 | ||
| 5′-FR | −1343 | T→C | 0.371 | 0.137 | 0.064 | rs4458647 | |
| 5′-FR | −1271 | C→T | 0.000 | 0.011 | 0.011 | ||
| 5′-FR | −930 | A→C | 0.000 | 0.000 | 0.005 | ||
| 5′-FR | −824 | insertion of TC | 0.000 | 0.005 | 0.000 | ||
| 5′-FR | −715 | G→A | 0.068 | 0.223 | 0.421 | rs2065114 | |
| 5′-FR | −637 | C→T | 0.026 | 0.000 | 0.000 | ||
| 5′-FR | −634 | C→T | 0.374 | 0.137 | 0.064 | rs9450279 | |
| 5′-FR | −482 | G→A | 0.047 | 0.000 | 0.000 | rs6919558 | |
| 5′-FR | −417 | G→A | 0.021 | 0.000 | 0.000 | ||
| 5′-FR | −396 | G→C | 0.347 | 0.128 | 0.064 | rs2295890† | |
| 5′-FR | −220 | C→A | 0.005 | 0.000 | 0.000 | ||
| 5′-FR | −93 | C→T | 0.005 | 0.000 | 0.000 | ||
| 5′-FR | −85 | C→A | 0.000 | 0.005 | 0.000 | ||
| 5′-FR | −79 | C→T | 0.005 | 0.005 | 0.000 | ||
| 5′-FR | −77 | G→T | 0.000 | 0.000 | 0.005 | ||
| Exon 1 | 141 | C→G | D(47)E | 0.000 | 0.000 | 0.005 | |
| Exon 1 | 167 | G→A | R(56)H | 0.005 | 0.000 | 0.000 | |
| Exon 1 | 184 | G→T | A(62)S | 0.000 | 0.005 | 0.000 | |
| IVS 1 | 13 | C→T | 0.021 | 0.000 | 0.000 | ||
| IVS 1 | 103 | G→A | 0.032 | 0.000 | 0.000 | ||
| IVS 1 | −26 | C→G | 0.005 | 0.000 | 0.000 | ||
| IVS 1 | −14 | T→C | 0.005 | 0.005 | 0.000 | ||
| Exon 2 | 342 | A→G | 0.063 | 0.000 | 0.000 | rs35694460 | |
| Exon 2 | 528 | C→T | 0.005 | 0.000 | 0.063 | ||
| Exon 2 | 555 | A→G | 0.000 | 0.005 | 0.000 | ||
| IVS 2 | 37 | T→C | 0.005 | 0.000 | 0.000 | ||
| IVS 2 | 53 | C→T | 0.036 | 0.000 | 0.000 | ||
| IVS 2 | −223 | A→C | 0.271 | 0.609 | 0.245 | rs10944728 | |
| IVS 2 | −194 | T→C | 0.000 | 0.016 | 0.000 | ||
| IVS 2 | −29 | A→G | 0.271 | 0.609 | 0.247 | rs10944129 | |
| IVS 3 | −225 | G→C | 0.005 | 0.036 | 0.000 | ||
| IVS 3 | −109 | G→A | 0.000 | 0.000 | 0.005 | ||
| Exon 4 | 840 | C→T | 0.000 | 0.000 | 0.005 | ||
| Exon 4 | 897 | C→T | 0.073 | 0.000 | 0.000 | rs35478984 | |
| IVS 4 | 70 | T→A | 0.000 | 0.000 | 0.005 | ||
| IVS 4 | 148 | G→A | 0.401 | 0.261 | 0.693 | rs9450282 | |
| IVS 4 | −350 | C→T | 0.000 | 0.005 | 0.000 | ||
| IVS 4 | −209 | T→C | 0.000 | 0.005 | 0.000 | ||
| IVS 4 | −63 | C→G | 0.375 | 0.094 | 0.073 | rs3812139† | |
| IVS 5 | 87 | G→A | 0.005 | 0.000 | 0.000 | ||
| IVS 5 | 160 | C→G | 0.000 | 0.016 | 0.000 | ||
| IVS 5 | −117 | A→G | 0.011 | 0.000 | 0.000 | ||
| IVS 5 | I5m46 | deletion of GAAG | 0.158 | 0.063 | 0.255 | rs60666442 | |
| Exon 6 | 1126 | G→A | T(376)A | 0.063 | 0.226 | 0.427 | rs2229523 |
| Exon 6 | 1136 | T→C | M(379)T | 0.395 | 0.053 | 0.073 | rs2229524 |
| Exon 6 | 1207 | A→C | N(403)H | 0.005 | 0.000 | 0.000 | |
| IVS 6 | 12 | G→C | 0.379 | 0.684 | 0.500 | rs9450284 | |
| IVS 6 | 33 | A→T | 0.000 | 0.000 | 0.005 | ||
| IVS 6 | −371 | C→T | 0.081 | 0.000 | 0.000 | ||
| IVS 6 | −79 | A→T | 0.048 | 0.000 | 0.000 | ||
| IVS 6 | −77 | C→T | 0.011 | 0.026 | 0.000 | rs41271619 | |
| Exon 7 | 1221 | C→G | 0.000 | 0.005 | 0.000 | ||
| IVS 7 | 11 | C→T | 0.000 | 0.005 | 0.000 | ||
| IVS 7 | 12 | deletion of ATCCTGTAGG | 0.000 | 0.005 | 0.000 | ||
| IVS 7 | −81 | A→G | 0.005 | 0.000 | 0.000 | ||
| IVS 8 | −218 | C→G | 0.097 | 0.000 | 0.000 | rs58285927 | |
| IVS 8 | −101 | deletion of T | 0.026 | 0.000 | 0.000 | ||
| Exon 9 | 1587 | A→G | T(530)A | 0.010 | 0.000 | 0.000 | rs34160251 |