VIP Variant in CYP2D6
CYP2D6 3183G>A (also seen as 3271G>A in the literature) was first identified by Marez et al [Article:9241659] in a screening of a large European population. Although it is very rare in Europeans, it was later identified as part of the reduced functioning haplotype CYP2D6*29, which is found at an estimated allele frequency of 20% in African Tanzanians [Article:11470994]. Functional characterization of CYP2D6 3183G>A in COS-1 cells showed a slightly reduced activity as measured by bufuralol hydroxylation, but this activity was reduced further when the CYP2D6*29 mutations were made in combination [Article:11407994].
Note: The CYP2D6 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.
Appendix
CYP2D6: 3183G>A
| Genomic Variant & GenBank ID: | G4803A on M33388 |
|---|---|
| mRNA Variant & GenBank ID: | G1012A on X08006 |
| Protein Variant & GenBank ID: | V338M on AAH75024 |
| GoldenPath Position: | chr22:40853554 on hg 18 |
| DNA Source Containing *Homozygous Reference* *Allele(Coriell Lines):* | GM17242 |
| DNA Source Containing *Heterozygous* *Reference* *Allele* (Coriell Lines): | GM17140 |
| DNA Source Containing *Homozygous Minor* *Allele(Coriell Lines):* | GM17131 |
Connected Drugs
Connected Diseases
| Evidence | Disease |
|---|---|
| Cystic Fibrosis | |
| Depression | |
| Hypertension | |
| Neoplasms | |
| Pain | |
| Parkinson Disease | |
| Schizophrenia |
Publications related to rs59421388 at chr22:42523610: 2
| Characterization of the CYP2D6*29 allele commonly present in a black Tanzanian population causing reduced catalytic activity. Pharmacogenetics. 2001. Wennerholm A, et al. [Article:11470994@PubMed] | |
| Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution. Pharmacogenetics. 1997. Marez D, et al. [Article:9241659@PubMed] |
Cross-References
- UCSC Golden Path:
- chr22:42523610
- dbSNP:
- rs59421388
- ALFRED:
- SI015499C