Table 1.
ALDH5A1-coding polymorphisms
| Gene location (exon) | dbSNP | Position on chromosome 6 (bp) | Nucleotide variation | Amino acid substitution | MAF ± SE | Expressed enzyme activity* |
|---|---|---|---|---|---|---|
| 1 | rs4646832 | 24603309 | c.106G > C | G36R | 0.051 + 0.036 | 86.7% |
| 3 | rs2760118 | 24611569 | c.538C > T | H180Y | 0.179 + 0.061 | 82.5% |
| 3 | rs3765310 | 24611576 | c.545C > T | P182L | 0.051 + 0.036 | 46.7% |
| 4 | rs62621664 | 24613175 | c.709G > T | A237S | 0.026 + 0.026 | 65.1% |
| 9 | rs61744005 | 24640371 | c.1389T > C | D463D | 0.026 + 0.026 | n.t. |
* Expressed as a percentage of the corresponding wild-type control (100 per cent).
Abbreviations: bp, base pairs; dbSNP, Single Nucleotide Polymorphism database; MAF, minor allele frequency in Italian samples; n.t., not tested; SE, standard error