IdentifierDBSNPE005873
DrugDB00675 (Tamoxifen)
Interacting Gene/EnzymeCytochrome P450 2D6
Gene NameCYP2D6
UniProt IDP10635
Defining Change(s)
  • -1770G>A
  • -1584C>G
  • -1235A>G
  • -740C>T
  • -678G>A
  • CYP2D7 gene conversion in intron 1
  • 310G>T
  • 746C>G
  • 843T>G
  • 1661G>C
  • 2850C>T
  • 3384A>C
  • 3584G>A
  • 3790C>T
  • 4042G>A
  • 4180G>C
  • 4481G>A
Allele NameCYP2D6*31
Genotype(s)Not Available
Type(s)Effect Inferred
GroupsNon-functional CYP2D6
DescriptionPoor response to drug treatment, shorter time to relapse
References
  1. Marez D, Legrand M, Sabbagh N, Lo Guidice JM, Spire C, Lafitte JJ, Meyer UA, Broly F: Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution. Pharmacogenetics. 1997 Jun;7(3):193-202. [PubMed:9241659 ]
  2. Allorge D, Breant D, Harlow J, Chowdry J, Lo-Guidice JM, Chevalier D, Cauffiez C, Lhermitte M, Blaney FE, Tucker GT, Broly F, Ellis SW: Functional analysis of CYP2D6.31 variant: homology modeling suggests possible disruption of redox partner interaction by Arg440His substitution. Proteins. 2005 May 1;59(2):339-46. [PubMed:15726636 ]
  3. Gaedigk A, Isidoro-Garcia M, Pearce RE, Sanchez S, Garcia-Solaesa V, Lorenzo-Romo C, Gonzalez-Tejera G, Corey S: Discovery of the nonfunctional CYP2D6 31 allele in Spanish, Puerto Rican, and US Hispanic populations. Eur J Clin Pharmacol. 2010 Sep;66(9):859-64. doi: 10.1007/s00228-010-0831-4. Epub 2010 May 16. [PubMed:20473659 ]
  4. The Human Cytochrome P450 (CYP) Allele Nomenclature Database [Link]