Table.

Summary of Disease-Associated Mutations in ALDH5A1 (SSADH Deficiency)

Exon	Nucleotide change	Change in protein	Ref
1	c.34dupG	p.a12fsX123	39
1	c.103_121del	p.S35fsX49	51
1	c.160_161delCT	p.S55fsX79	39
1	c.235C>T	p.Q79X	39
1	c.278G>T	p.C93F	39
1	c.278_298dup	p.C93_R99dup	39
1	c.384C>G	p.Y128X	39
1	c.412C>T	p.L138F	*
1	c.455_456dupAG	p.A153fsX12	39
1	c.460_473del	p.H154fsX10	39
1	c.466G>A	p.E156K	56
Exon 2 / Exon 5	r.EX2_EX5del	p.E119_K290del	39
2	c.517C>T	p.R173C	56
2	c.526G>A	p.G176R	39
2	c.527G>A	p.N176S	53
2	c.574A>T	p.K192X	39
3	c.587G>A	p.G196D	55
Intron 3 / Exon 4	IVS3—2 A>G (r.439_452del)	p.K148fsX16	39
3	c.612G>A	p.W204X	39
3	c.621delC	p.S208fsX2	39, 46
3	c.608C>T	p.P203L	57
3	c.668G>A	p.C223Y	39
3	c.691G>A	p.N231D	53
3	c.698C>T	p.T233M	39
4	c.754G>T	p.Q252X	*
4	c.764A>G	p.N255S	39
4	c.781C>T	p.R261X	39
5	c.803G>A	p.G268E	39
Exon 5 / Intron 5	IVS5+1G>A (r.EX5del)	p.L243_K290del	39
Exon 5 / Intron 5	IVS5+1G>T (r.EX5del)	p.L243_K290del	39
5	c.901A>G	p.K301E	52
5	c.1005C>A	p.N335K	39
6	c.1145C>T	p.P382L	39
6	c.1145C>A	p.382Q	39
7	c.1226G>A	p.G409D	39, 54
7	c.1234C>T	p.R412X	39
8	c.1323dupG	p.P442fsX18	39
Exon 8 / Intron 8	IVS8+1delG; IVS8+3A>T (rEX8del)	p.V392fsX10	39
Exon 9 / Intron 9	IVS9+1G>T (r.EX9del)	p.F449fsX53	39
8	c.1333A>C	p.M445L	60
8	c.1360G>A	p.A454T	*
8	c.1460T>A	p.V487E	51
9	c.1540C>T	p.R514X	39
10	c.1557T>G	p.Y519X	45
10	c.1597G>A	p.G533R	39

(* previously unpublished)