Important Variant Information for CYP2C19
Submitted by: Jason Robarge, Rebecca Fletcher, Anne Nguyen (COBRA), Caroline F. Thorn (PharmGKB)
Reviewed by: Under Review
Submitted date: September 30, 2006
There are Two Important Variants for CYP2C19.
| Gene HGNC Name: | CYP2C19 |
|---|---|
| Variant Summary: | The G>A change at position 636 in the cDNA results in a premature termination codon at amino acid 212 (W212X) [PMID: 7969038]. CYP2C19: 636G>A is the defining SNP of the CYP2C19*3 haplotype. |
| Key PubMed IDs: | 7969038; 7586932 |
| GoldenPath Position: | Chr10:96530400 (hg18) |
| mRNA Variant & GenBank ID: | G>A at 636 on NM_000769 |
| Genomic Variant & GenBank ID: | G>A at 19952 on AY796203.1 |
| Protein Variant & GenBank ID: | Trp>Ter at 212 on NP_000760 |
| dbSNP rs#: | rs4986893 |
| Key Drugs/Substrates: | lansoprazole; omeprazole; pantoprazole; rabeprazole; phenytoin; mephenytoin; phenobarbitone; amitriptyline; carisoprodol; citalopram; clomipramine; cyclophosphamide; hexobarbital; imipramine; indomethacin; mephobarbital; moclobemide; nelfinavir; nilutamide; primidone; progesterone; proguanil; propranolol; teniposide; warfarin |
| Key Phenotypes/Diseases: | Phenotypes: Mephenytoin poor metabolizer (OMIM: 124020); Omeprazole poor metabolizer (OMIM: 124020); Proguanil poor metabolizer (OMIM: 124020) |
| Key Haplotypes | CYP2C19*3 |
| Gene HGNC Name: | CYP2C19 |
|---|---|
| Variant Summary: | The CYP2C19:681G>A variant introduces a splicing defect altering the reading frame of the mRNA starting with amino acid 215 and produces a premature stop codon 20 amino acids downstream, which results in a truncated, non-functional protein responsible for the poor metabolizer phenotype [PMID: 8195181]. This SNP is the defining SNP of the CYP2C19*2 haplotype. |
| Key PubMed IDs: | 8195181; 9732415 |
| GoldenPath Position: | Chr10:96531606 (hg18) |
| mRNA Variant & GenBank ID: | G>A at 681 on NM_000769 |
| Genomic Variant & GenBank ID: | G>A at 21158 on AY796203.1 |
| Protein Variant & GenBank ID: | Pro>Pro at 227 on NP_000760 |
| dbSNP rs#: | rs4244285 |
| Key Drugs/Substrates: | lansoprazole; omeprazole; pantoprazole; rabeprazole; phenytoin; mephenytoin; phenobarbitone; amitriptyline; carisoprodol; citalopram; clomipramine; cyclophosphamide; hexobarbital; imipramine; indomethacin; mephobarbital; moclobemide; nelfinavir; nilutamide; primidone; progesterone; proguanil; propranolol; teniposide; warfarin |
| Key Phenotypes/Diseases: | Phenotypes: Mephenytoin poor metabolizer (OMIM: 124020); Omeprazole poor metabolizer (OMIM: 124020); Proguanil poor metabolizer (OMIM: 124020) |
| Key Haplotypes | CYP2C19*2 |