The two primary MTHFR variants are C677T (rs1801133) which substitutes valine for alanine at position 222, reducing enzyme activity by approximately 35% in heterozygotes and 70% in T/T homozygotes at physiological folate concentrations and A1298C (rs1801131) which substitutes glutamate for alanine at position 429, reducing activity by approximately 20% in heterozygotes, with compound heterozygosity (C677T + A1298C) producing effects between the two individual homozygous states
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doi: 10.1016/j.cbi.2007.11.009
JPGN Rep 5(4):548551
GSTP1 and GSTM1 do have multiple SNPs (for example, GSTP1 rs1695, A105G results in an amino acid substitution in codon 105 from valine to isoleucine associated with increased cancer risk), however, the null alleles described and focused on in this review result from gene deletion between the H3 and H5 regions flanking the gene [35]
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