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

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

ISSN: 1479-7364