What pharmacogenomic variants are known in MTHFR?

Key variants in MTHFR: rs1801133 (C677T (Ala222Val)), rs1801131 (A1298C (Glu429Ala)). These variants are associated with Hyperhomocysteinemia, Neural tube defects, Cardiovascular disease.

Can PepFold design peptides targeting MTHFR?

Yes. PepFold accepts rsIDs associated with MTHFR, maps them to the protein structure, and generates peptide candidates. FAD-binding domain stabilizers, enzyme-activating peptides, and 5-MTHF functional mimics targeting the catalytic site.

Gene Database

MTHFR — Methylenetetrahydrofolate Reductase

Q: What is the MTHFR gene?

MTHFR (Methylenetetrahydrofolate Reductase) is located on chromosome 1p36.22. Catalyzes conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the primary circulating form of folate. Essential for homocysteine remethylation and one-carbon metabolism.

Chromosome 1p36.22

Catalyzes conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the primary circulating form of folate. Essential for homocysteine remethylation and one-carbon metabolism.

Pharmacogenomic Variants

rs1801133Drug response / Risk factor

C677T (Ala222Val) — Hyperhomocysteinemia

rs1801131Drug response

A1298C (Glu429Ala) — Reduced folate metabolism

Peptide Therapeutic Approaches

FAD-binding domain stabilizers, enzyme-activating peptides, and 5-MTHF functional mimics targeting the catalytic site.

Related Therapeutics

L-methylfolate (Deplin)Folic acid supplementation

Associated Conditions

Hyperhomocysteinemia (MTHFR-related)

Elevated blood homocysteine due to MTHFR variants (C677T, A1298C) affecting folate metabolism. Associated with cardiovascular disease, neural tube defects, and potential cognitive effects. The most common pharmacogenomic condition worldwide.

Analyze MTHFR variants with PepFold

Submit rs1801133, rs1801131 and get ranked peptide candidates in under 2 minutes.

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