Variant:
rs2066702 at chr4:100229017 in ADH1B (VIP)

Alleles (on + chromosomal strand)
G > A
Amino Acid Translation
Arg370Cys
Alternate Names:
ADH1B*3, ADH1B: Arg396Cys, c.1108C>T, g.18556C>T, g.24776738G>A, p.Arg370Cys

VIP Variant in ADH1B

Note: The ADH1B gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.



ADH1B*3 (Arg369Cys in exon 9) has been found in some African American and Native American populations to be correlated with protection against alcoholism [Articles:17718395, 17718396, 16571603]. It has a Vmax about 30 times higher than the *1 allele [Article:16571603]. This allele is not typically found in the Asian or Caucasian populations.

Key Publications:

Appendix

Genomic Variant & GenBank ID: 13542C>T on NT_016354 (note: this DNA sequence encodes ADH1B*2)
mRNA Variant & GenBank ID: 1192C>T on NM_000668 (note: this mRNA sequence encodes ADH1B*2)
Protein Variant & GenBank ID: R370C on NP_000659 (note: this protein sequence encodes ADH1B*2)
GoldenPath Position: chr4:100448040&c=chr4&l=100447789&r=100448290&db=hg18&pix=620] (hg18)

Publications related to rs2066702 at chr4:100229017: 3

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Health-related effects of genetic variations of alcohol-metabolizing enzymes in African Americans. Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism. 2007. Scott Denise M, et al. [Article:17718396@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Variations in ADH and ALDH in Southwest California Indians. Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism. 2007. Ehlers Cindy L. [Article:17718395@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available VIP No VIP available
Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis. Human molecular genetics. 2006. Edenberg Howard J, et al. [Article:16571603@PubMed]

Cross-References

UCSC Golden Path:
chr4:100229017
dbSNP:
rs2066702
ALFRED:
SI000230F
HapMap:
rs2066702
LS-SNP:
rs2066702

Platform Availability

  • Affymetrix

Common Searches

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