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
  • A1572G
  • MTHFR A4117C
  • MTHFR C-137T
  • C10318T
  • MTHFR C24909T
  • G1793A (R594Q)
  • MTHFR G18861A