Human Polymorphisms of ALDH Genes

Updated on January 31, 2001

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Vasilis Vasiliou                                          Vasilis Vasiliou
Amos Bairoch
David Crabb
John Hempel
 Keith F. Tipton
Daniel W. Nebert


Allele symbol Nucleotide change Effect on protein Exon Reference
ALDH1B1*1 Wild type
ALDH1B1*2 257C=>T V69A 2 Hsu and Chang, 1991
ALDH1B1*3 320T=>G R90L 2 Hsu and Chang, 1991
ALDH1B1*4 183C=>T Silent 2 Hsu and Chang, 1991
ALDH2*1 Wild type
ALDH2*2 1510G=>A E487K 12 Yoshida et al., 1984
ALDH2*3 1486G=>A E479K 12 Novoradovsky et al., 1995
ALDH2*4 1464G=>A Silent 12 Novoradovsky et al., 1995
ALDH3A1*1 Wild type
ALDH3A1*2 985C=>G P329A 9 Tsukamoto et al., 1997
ALDH3A2*1 Wild type
ALDH3A2*2 521delT Frameshift 4 De Laurenzi et al., 1996
ALDH3A2*3 808delG Frameshift 6 De Laurenzi et al., 1996
ALDH3A2*4 941del3
94lins21		 A314G, P315A
AKSTVG313ins		 7
7		 De Laurenzi et al., 1996
ALDH3A2*5 641G=>A G214Y 4 De Laurenzi et al., 1996
ALDH3A2*6 1297delGA Frameshift 9 Tsukamoto et al., 1997
ALDH3A2*7 1311linsACAAA Frameshift 9 Tsukamoto et al., 1997
ALDH3A2*8 1297delGA Frameshift 9 Tsukamoto et al., 1997
ALDH4A1*1 Wild type
ALDH4A1*2 21delG Frameshift ¤ Geraghty et al., 1998
ALDH4A1*3 1055C=>T S352L Geraghty et al., 1998
ALDH4A1*4 47C=>T P16L Geraghty et al., 1998
ALDH4A1*5 1563insT Frameshift Geraghty et al., 1998
ALDH9A1*1 Wild type
ALDH9A1*2 344G=>C C115S 2 Lin et al., 1996
ALDH9A1*3 327C=>T Silent 2 Lin et al., 1996

¤Gene structure not known yet

Links with databases

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E-mail questions or comments to: vasilis.vasiliou@ucdenver.edu