Rs1065852

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CYP2D6 drug metabolism
is asnp
is mentioned by
dbSNPrs1065852
hapmaprs1065852
hgdprs1065852
ensemblrs1065852
gopubmedrs1065852
scholarrs1065852
googlers1065852
pharmgkbrs1065852
hgvbaseg2prs1065852
medrefsnprs1065852
23andMers1065852
SNP Nexus

GeneCYP2D6
Chromosome22
Orientationminus
Position40856637
GenotypeEffect
rs1065852(C;C)normal
rs1065852(C;T)possible CYP2D6 poor metabolizer
rs1065852(T;T)CYP2D6 poor metabolizer


Genotypes Magnitude Summary
Rs1065852(C;C) 00 normal
Rs1065852(C;T) 22 possible CYP2D6 poor metabolizer
Rs1065852(T;T) 3.23.2 CYP2D6 poor metabolizer
The (T) form of this SNP causes an amino acid change (from proline to serine) at position 34 of the CYP2D6 protein. The associated allele is also known as CYP2D6.10 or CYP2D6*10.

If two copies of this (or similar) changes are inherited, poor metabolism ('PM') of debrisoquine [PMID 2211621] is observed.

Other drugs metabolized by CYP2D6 include dextromorphan, sparteine, nortriptyline, and codeine.

Nakamura et al [PMID 12051754] suggest that thermal instabilities and reduced intrinsic clearance by the protein encoded by the rs1065852(T) allele are the main reasons Orientals show lower metabolic activities than Caucasians for drugs metabolized mainly by CYP2D6, since this (T) allele occurs in higher frequency in Orientals.

It is also suggested that poor metabolizers of debrisoquine will be poor metabolizers of metoprolol, diltiazem (brand name cardizem), and propafenone. [PMID 3437726]


PharmGKBPA161145190
NameCYP2D6:100C>T
AnnotationSNP is part of both the non-functional CYP2D6*4 haplotype and the reduced function CYP2D6*10 haplotype.
GeneCYP2D6
FeatueExon/NonSyn
EvidenceWeb Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2d6/variant.jsp#ImportantVariantInformationforCYP2D6-111
Drugs
Diseases
Curation LevelIn-Depth