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Table 1 CYP2D6 alleles in the Karen study population and related nucleotide and amino acid substitutions

From: Real time PCR detection of common CYP2D6 genetic variants and its application in a Karen population study

Alleles Nucleotide substitutions Amino acid substitutions Ref SNP ID
CYP2D6*1 Reference allele Reference protein
CYP2D6*2 C2850T, G4180C R296C, S486T rs16947
CYP2D6*4 C100T, G1846A, G4180C P34S, splicing defect, S486T rs3892097
CYP2D6*5 Deletion of CYP2D6 gene Not applicable Not applicable
CYP2D6*10 C100T, G4180C P34S, S486T rs1065852
CYP2D6*36 C100T, G4180C, gene conversion to CYP2D7 in exon 9 P34S, S486T
  1. The nucleotide and amino acid substitutions in bold letters denote key variations used to assign particular variant alleles, based on Gene bank accession number M33388.1. Unique allele names were assigned as described in the Human Cytochrome P450 (CYP) Allele Nomenclature Database (http://www.imm.ki.se/CYPalleles/)