VIP Variant in CYP2D6
CYP2D6 2549 del A (also known as 2637 del A in the literature) causes a frameshift mutation that results in a truncated, non-functional protein. CYP2D6 2549 del A was first cloned from a genomic library of a PM by Kagimoto et al. [Article:2211621], and is the diagnostic SNP for the CYP2D6*3 haplotype [Article:10634130]. CYP2D6 2549 del is essentially only found in Caucasian populations [Article:9241659].
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: 2549 del A
| Genomic Variant & GenBank ID: | 4168 del A on M33388 |
|---|---|
| mRNA Variant & GenBank ID: | A775 del on X08006 |
| Protein Variant & GenBank ID: | frameshift |
| GoldenPath Position: | chr22:40854188 on hg 18 |
| DNA Source Containing Homozygous Reference Allele(Coriell Lines): | GM17021 |
| DNA Source Containing Heterozygous Reference Allele (Coriell Lines): | GM17024 |
| Key Haplotypes: | CYP2D6*3 |
Connected Drugs
Connected Diseases
| Evidence | Disease |
|---|---|
| Cystic Fibrosis | |
| Depression | |
| Hypertension | |
| Neoplasms | |
| Pain | |
| Parkinson Disease | |
| Schizophrenia |
Publications related to rs35742686 at chr22:42524244: 3
| Optimization of cytochrome P4502D6 (CYP2D6) phenotype assignment using a genotyping algorithm based on allele frequency data. Pharmacogenetics. 1999. Gaedigk A, et al. [Article:10634130@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] | |
| Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes. The Journal of biological chemistry. 1990. Kagimoto M, et al. [Article:2211621@PubMed] |
Cross-References
- UCSC Golden Path:
- chr22:42524244
- dbSNP:
- rs35742686
- ALFRED:
- SI015495Y