VIP Variant in CYP2A6
This variant (50364-50365delTT) encodes a truncated protein as a result of 2 deleted nucleotides in exon 4, leading to a frameshift that creates a new stop codon in exon 5 [Articles:15993850, 19279561]. rs28399444 is present within the CYP2A6*20 allele, which is associated with decreased CYP2A6 function.
The allele frequency is reported as: 0% in Caucasians, Japanese and Koreans and approximately 1.5% in African Americans [Articles:15993850, 19279561].
| Key Publications: | |
|---|---|
| Drugs / Other Molecules | |
| Diseases | Tobacco Use Disorder |
| Phenotype |
When CYP2A6-50364-50365delTT is expressed in E.coli, no coumarin 7-hydroxylation or nicotine C-oxidation activity was detected [Article:15993850]. Individuals possessing CYP2A6*20 alleles demonstrated lower cotinine/nicotine ratios 2 hours after chewing nicotine gum compared to those with CYP2A6*1/*1 genotypes [Article:15993850]. |
Appendix
Key Haplotypes: CYP2A6*20
Genomic Variant & GenBank ID: T50364del, T50365del on NG_000008.6
mRNA Variant & GenBank ID : 596-597delAA on NM_000762
Protein Variant & GenBank ID: Frameshift resulting in early stop codon at residue 220 in exon 5
gp position: chr19:46046030(hg18)
