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Table 1 ALDH5A1-coding polymorphisms

From: Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency

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.
  1. * Expressed as a percentage of the corresponding wild-type control (100 per cent).
  2. Abbreviations: bp, base pairs; dbSNP, Single Nucleotide Polymorphism database; MAF, minor allele frequency in Italian samples; n.t., not tested; SE, standard error