ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the Yale Center for Medical Informatics.
00ALFRED detailed record information

Polymorphism Information

NameALFRED UIDLocus NameLocus Symbol
exon 12 Glu487LysSI000734OAldehyde dehydrogenase 2 family (mitochondrial)ALDH2
FstAvg Het# Populations Typed
Synonyms: rs671 ;
Frequency Display Formats:     
Estimated Heterozygosity: 
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 NameAllele SymbolDescription
487GluG5'-ctgcaggcatacact G AA gtgaaaactgtga-3'
487LysA5'-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.

© 2019 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