What Does That Mean? MTHFR A1298C Terminology Basics: MTHFR is the short name for the genes that code for the enzyme that changes folic acid to the active form that your body uses (the long name is methylfolate reductace). 1298 is the marker for one particular MTHFR gene. The official genetics labeling of this gene is Rs1801131 At nucleotide 1298 of the MTHFR, there are two possibilities: A or C. 1298A (leading to a Glu at amino acid 429) is the most common while 1298C (leading to an Ala substitution at amino acid 429) is less common. 1298AA is the “normal” homozygous, 1298AC the heterozygous, and 1298CC the homozygous for the “variant”. You get one copy of this gene from...
What Does That Actually Mean? C677T or rs1801133 is a genetic variation—a single nucleotide polymorphism (SNP)—in the MTHFR gene. You get one copy of this gene from your mother and one from your father, so there are two possible copies that can be either “normal” or “mutant” If you inherited one good copy and one bad copy that’s called “heterozygous C677T” If you inherited two bad copies (one from each parent) that’s called “homozygous C677T” C…T stand for the bases that you actually have. C = cytosine, T = thymine. Bases are essentially the letters that spell out your genetic code. There are four of them commonly (C, T, A and G). When this gene is “normal” it looks like MTHFR...
