ALFRED detailed record information
Synonyms: rs671 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
External Resources: Typing Protocol Record dbSNP ss# Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: G to A substitution at base 1510 in exon 12 which causes an amino acid Glu to Lys change. The Lys allele is the dominant negative variant that is strongly associated with resistance to alcoholism and the flushing reaction to ethanol found in some individuals of East Asian ancestry. This polymorphism is located at codon 487 in the mature peptide. In the initial product of translation, which includes a signal peptide (17 aa), the polymorphism is located at codon 504. In traditional usage the Glu allele is number 1 (eg: ALDH2*1) and the Lys allele is number 2 (eg: ALDH2*2).
Ancestral Allele: E
Ancestral Allele Determine by: Sequence of non-primates
|Allele Name||Allele Symbol||Description|
|487Glu||G||5'-ctgcaggcatacact G AA gtgaaaactgtga-3'|
|487Lys||A||5'-ctgcaggcatacact A AA gtgaaaactgtga-3'|
- Novoradovsky AG, Kidd J, Kidd K, Goldman D. "Apparent monomorphism of ALDH2 in seven American Indian populations". Alcohol 12:63-7. (1995) Online citation.
- Oota H, Pakstis AJ, Bonne-Tamir B, Goldman D, Grigorenko E, Kajuna SL, Karoma NJ, Kungulilo S, Lu RB, Odunsi K, Okonofua F, Zhukova OV, Kidd JR, Kidd KK.
"The evolution and population genetics of the ALDH2 locus: random genetic drift, selection, and low levels of recombination". Ann Hum Genet 68:93-109. (2004) Online citation.
© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan