VIP Variant in CYP2D6
CYP2D6 1659G>A (also seen as 1747G>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 1659G>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:11470994].
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.
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Drug (38)
amitriptyline
1
atomoxetine
2
carvedilol
3
chlorpheniramine
4
chlorpromazine
5
citalopram
6
clomipramine
7
clozapine
8
codeine
9
debrisoquine
10
desipramine
11
dextromethorphan
12
doxepin
13
flecainide
14
fluoxetine
15
fluvoxamine
16
gefitinib
17
haloperidol
18
imipramine
19
maprotiline
20
metoprolol
21
mexiletine
22
mianserin
23
morphine
24
nortriptyline
25
paroxetine
26
perhexiline
27
perphenazine
28
propafenone
29
risperidone
30
sparteine
31
tamoxifen
32
thioridazine
33
timolol
34
tolterodine
35
tramadol
36
yohimbine
37
zuclopenthixol
38
|
| Diseases | Cystic Fibrosis Depression Hypertension Neoplasms Pain Parkinson Disease Schizophrenia |
Appendix
CYP2D6: 1659 G>A
| Genomic Variant & GenBank ID: | G3278A on M33388 |
|---|---|
| mRNA Variant & GenBank ID: | G408A on X08006 |
| Protein Variant & GenBank ID: | V136I on AAH75024 |
| GoldenPath Position: | chr22:40855078 on hg 18 |
Connected Drugs
Connected Diseases
| Evidence | Disease |
|---|---|
| Cystic Fibrosis | |
| Depression | |
| Hypertension | |
| Neoplasms | |
| Pain | |
| Parkinson Disease | |
| Schizophrenia |
Publications related to rs61736512 at chr22:42525134: 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:
- chr22:42525134
- dbSNP:
- rs61736512
- ALFRED:
- SI015493W