What genetic variants are associated with Hyperhomocysteinemia (MTHFR-related)?

Key pharmacogenomic variants: rs1801133 in MTHFR, rs1801131 in MTHFR. Genes involved: MTHFR, MTR, MTRR.

How can PepFold help with Hyperhomocysteinemia (MTHFR-related) research?

PepFold accepts the rsIDs associated with Hyperhomocysteinemia (MTHFR-related) (rs1801133, rs1801131) and generates computational peptide candidates targeting the affected proteins. Each candidate comes with predicted 3D structures, 10-dimension scoring, and Fmoc-SPPS synthesis protocols.

Condition Database

Hyperhomocysteinemia (MTHFR-related)

Prevalence: 10-15% of most populations are TT homozygous for C677T; up to 25% in some Mediterranean populations

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.

Peptide Therapeutics

Peptides stabilizing the MTHFR FAD-binding domain, enzyme-activating peptides restoring thermolabile MTHFR function, and folate-cycle modulator peptides are computational research targets.

Current Treatments

L-methylfolate supplementation, folic acid, B12, B6. No approved peptide therapeutics.

Key Genetic Variants

rs1801133~32% global allele frequency (T allele)

MTHFR — C677T (Ala222Val)

rs1801131~30% global (C allele)

MTHFR — A1298C (Glu429Ala)

Associated Genes

MTHFRMethylenetetrahydrofolate Reductase

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

MTRProfile coming soon

MTRRProfile coming soon

Explore peptide candidates for Hyperhomocysteinemia (MTHFR-related)

Submit rs1801133, rs1801131 to PepFold. Full report with 3D structures and synthesis protocols in under 2 minutes.

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