VIP Variant in CYP3A5
Note: The CYP3A5 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.
CYP3A5*7 (rs76293380; 27131-27132insT) is an insertion polymorphism which resides between codons 345/346 and results in a shift in reading frame [Article:11740341]. This shift introduces a premature termination codon at position 348 (D348), resulting in truncated and nonfunctional protein. CYP3A5*7 occurs at a frequency of about 8% in the African population [Article:12893984] but has not been found in White [Articles:11740341, 12324482, 12893984] or Asian populations [Articles:12893984, 18211618].
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Appendix
| Genomic Variant & GenBank ID: | 280312 T>TT on NG_000004.2 |
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| mRNA Variant & GenBank ID: | 1122 T>TT on NM_000777 |
| Protein Variant & GenBank ID: | Pro/Thr 345/6 Pro/Tyr, NP_000768 , but produces termination codon at codon number 348 (Asp348ter). |
Publications related to rs76293380 at chr7:99250394: 6
| Frequencies of CYP3A5 genotypes and haplotypes in a Korean population. Journal of clinical pharmacy and therapeutics. 2008. Park S Y, et al. [Article:18211618@PubMed] | |
| CYP3A5 genetic polymorphisms in different ethnic populations. Drug metabolism and disposition: the biological fate of chemicals. 2005. Roy Jean-Nicholas, et al. [Article:15833928@PubMed] | |
| Functionally defective or altered CYP3A4 and CYP3A5 single nucleotide polymorphisms and their detection with genotyping tests. Pharmacogenomics. 2005. Lee Su-Jun, et al. [Article:16004554@PubMed] | |
| Genetic findings and functional studies of human CYP3A5 single nucleotide polymorphisms in different ethnic groups. Pharmacogenetics. 2003. Lee Su-Jun, et al. [Article:12893984@PubMed] | |
| CYP3A5 variant allele frequencies in Dutch Caucasians. Clinical chemistry. 2002. van Schaik Ron H N, et al. [Article:12324482@PubMed] | |
| The genetic determinants of the CYP3A5 polymorphism. Pharmacogenetics. 2001. Hustert E, et al. [Article:11740341@PubMed] |
