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MTHFR
Methylenetetrahydrofolate Reductase
Key enzyme in folate metabolism affecting methylation and homocysteine levels
Genetic Variants (3 variants)
rs1801133 (C677T) High

Most studied MTHFR variant affecting folate metabolism

CC
Wild-type
None
CT
Heterozygous
Moderate
TT
Homozygous
High
Methylfolate (5-MTHF) Folate (Vitamin B9) Methylfolate (5-MTHF) Folate (Vitamin B9) Methylcobalamin (B12)
rs1801131 (A1298C) Moderate

Second major MTHFR variant affecting BH4 synthesis

AA
Wild-type
None
AC
Heterozygous
Low
CC
Homozygous
Moderate
Folate (Vitamin B9) Folate (Vitamin B9)
rs2274976 (MTHFR R594Q) Moderate
GG
Wild-type
None
GA
Heterozygous
Low
AA
Homozygous
Moderate
Methylfolate (5-MTHF) Methylfolate (5-MTHF)

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