ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Aldehyde dehydrogenase 2 family (mitochondrial)LO000418NALDH21212q24.2
Synonyms: aldehyde dehydrogenase 2, mitochondrial ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence    UniGene   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: Aldehyde dehydrogenase 2 (ALDH2 [MIM: 100650] is a mitochondrial enzyme present primarily in adult liver, kidney, muscle and heart (Stewart et al. 1996). ALDH2 is considered to be the main enzyme in acetaldehyde oxidization related to alcohol metabolism (Goedde et al. 1979). The ALDH2 gene encoding this enzyme is 44 kb long, located on the long arm of chromosome 12 (12q24.2 ) [GenBank accession number: NT_009775], and is composed of 13 exons, encoding 517 amino acid resides (Hsu et al. 1988). There is a G to A nucleotide substitution in exon 12 at mRNA nucleotide position 1510 causes a Glu to Lys amino acid substitution at amino acid position 487. This generates the deficient variant ALDH2*487Lys (previous symbol: ALDH2*2) which has been reported in East Asian populations at high frequencies (as high as 30.0%) but as not been seen in other population studied (Shibuya&Yoshida 1988; Peterson et al. 1999a).
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)		dbSNP rs#
(Navigates to dbSNP
reference page)		Chr-PositionStatus# Populations
typed
5' promoter SacI rs886205   11220442785
5-site haplotype(SacI, HaeIIIc, RsaI, HaeIIIa, Glu487Lys)   11220442736
rs4767939rs4767939   11220689590
rs4767944rs4767944   11220934187
intron 1 HaeIII(C) rs2238151   11221183381
rs7312055rs7312055   11222017750
intron 3 RsaI rs4648328   11222278849
rs440rs440   1122287146
intron 6 HaeIII(A) rs441   11222884949
rs4646777rs4646777   11223003679
rs968529rs968529   11223436887
C____340538_10rs4646778   11223578387
exon 12 Glu487Lysrs671   11224176681

References:
- Goedde HW, Harada S, Agarwal DP. "Racial differences in alcohol sensitivity: a new hypothesis". Hum Genet. 51:331-4.. (1979) Online citation.

- Hsu LC, Bendel RE, Yoshida A. "Genomic structure of the human mitochondrial aldehyde dehydrogenase gene". Genomics 2:57-65. . (1988) Online citation.

- Hsu LC, Yoshida A, Mohandas T. "Chromosomal assignment of the genes for human aldehyde dehydrogenase-1 and aldehyde dehydrogenase-2". Am. J. Hum. Genet. 38:641-8. (1986) Online citation.

- Peterson RJ, Goldman D, Long JC. "Nucleotide sequence diversity in non-coding regions of ALDH2 as revealed by restriction enzyme and SSCP analysis. ". Hum Genet. 104:177-87. (1999) Online citation.

- Shibuya A, Yoshida A. "Frequency of the atypical aldehyde dehydrogenase-2 gene (ALDH2(2)) in Japanese and Caucasians". Am J Hum Genet. 43:741-3. . (1988) Online citation.

- Stewart MJ, Malek K, Crabb DW. "Distribution of messenger RNAs for aldehyde dehydrogenase 1, aldehyde dehydrogenase 2, and aldehyde dehydrogenase 5 in human tissues". J Investig Med. 44:42-6. (1996) Online citation.

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© 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