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Folate metabolism (MTHFR A1298C)

MTHFR · rs1801131

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Where this position leads

Condition: MTHFR Variants and Folate Metabolism

rs1801131 Condition: MTHFR Variants and Folate Metabolism MTHFR Variants and Folate Metabolism Condition rs1801131 MTHFR

What each result means

A/A Typical MTHFR enzyme activity in published research from this variant (distinct from the C677T variant — see rs1801133).
A/C Published research associates this genotype with mildly reduced MTHFR enzyme activity.
C/C Published research associates this genotype with reduced MTHFR enzyme activity. Effects are generally milder than the C677T variant alone, but the two are sometimes considered together since they affect the same enzyme.
Talk to a doctor or a registered dietitian about folate intake, especially if you are planning a pregnancy — and see rs1801133 (MTHFR C677T), which affects the same enzyme.

Source: van der Put et al. 1998, American Journal of Human Genetics — a second common mutation in the methylenetetrahydrofolate reductase gene.

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