Can PepFold design peptides for rs12248560?

Yes. PepFold accepts rs12248560 as input, annotates it via ClinVar, maps it to the CYP2C19 protein via UniProt, generates peptide candidates targeting affected functional domains, predicts their 3D structures with ESMFold, and produces a scored report with Fmoc-SPPS synthesis protocols.

SNP Database

rs12248560 — CYP2C19 CYP2C19*17 (-806C>T)

Q: What gene is rs12248560 in?

rs12248560 is a variant in the CYP2C19 (Cytochrome P450 2C19) gene located on chromosome 10q23.33. Metabolizes proton pump inhibitors, clopidogrel, certain antidepressants, and antifungals. Pharmacogenomic testing is recommended before clopidogrel therapy by CPIC guidelines.

Q: What is the clinical significance of rs12248560?

rs12248560 is classified as "Drug response" in ClinVar. The C>T substitution in the CYP2C19 promoter increases transcription factor binding (specifically GATA-4), enhancing CYP2C19 expression 2-3 fold. This leads to faster drug metabolism and potentially subtherapeutic drug levels at standard doses.

Drug response · ~21% Caucasians, ~4% East Asians

rs12248560 defines the CYP2C19*17 ultra-rapid metabolizer allele. Carriers metabolize proton pump inhibitors, clopidogrel, and certain antidepressants faster than normal, potentially requiring dose adjustments.

Molecular Mechanism

The C>T substitution in the CYP2C19 promoter increases transcription factor binding (specifically GATA-4), enhancing CYP2C19 expression 2-3 fold. This leads to faster drug metabolism and potentially subtherapeutic drug levels at standard doses.

Peptide Therapeutic Relevance

Understanding ultra-rapid metabolism informs peptide drug design: peptides that bypass CYP2C19 metabolism entirely would have consistent efficacy regardless of metabolizer status. PepFold designs metabolism-resistant candidates.

Gene: CYP2C19 (Cytochrome P450 2C19)

Metabolizes proton pump inhibitors, clopidogrel, certain antidepressants, and antifungals. Pharmacogenomic testing is recommended before clopidogrel therapy by CPIC guidelines.

Chromosome 10q23.33

Full CYP2C19 gene profile →

Condition: Drug Metabolism Disorders (CYP450 Pharmacogenomics)

Genetic variation in cytochrome P450 enzymes (CYP2D6, CYP2C19, CYP2C9) creates a spectrum from ultra-rapid to poor metabolizers. This affects ~25% of all prescribed medications and is the foundation of clinical pharmacogenomics.

Prevalence: 7-10% of Caucasians are CYP2D6 poor metabolizers; 2-5% are CYP2C19 poor metabolizers

Full Drug Metabolism Disorders (CYP450 Pharmacogenomics) profile →

Related Variants

rs4244285CYP2C19 — CYP2C19*2 (splicing defect)

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