MTHFR mutations (Types)

The MTHFR gene sits on chromosome 1

MTHFR C677T = 

a cytosine is changed to a thymine at nucleotide 677

Also called Ala222Val = MTHFR A222V – amino acid change from alanine to valine (This causes alanine to switch to valine)

Rs 1801133 – Snp ID

MTHFR A1298C =

at nucleotide 1298, the adenine changes to a cytosine causing glutamate to switch to alanine

Also called Glu429Ala = MTHFR E429A – amino acid change from glutamic acid to alanine (This causes glutamate to switch to alanine)

Rs 1801131 – Snp ID

Other MTHFR Snps

MTHFR 03 P39P

MTHFR A*372C

MTHFR A1572G

MTHFR A4117C

MTHFR C-137T

MTHFR C10318T

MTHFR C24909T

MTHFR G1793A (R594Q)

MTHFR G18861A