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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/)