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Depicts MTHFR variant activity For example, an individual who is heterozygous at both C677T (C/T) and A1298C (A/C), known as a compound heterozygote, is expected to exhibit a 55% decrease in MTHFR enzymatic activity (‐35% activity due to the presence of one T allele at C677T and ‐20% activity due to the presence of one C allele at A1298C = ‐55%)
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This modification process regulates the structure and function of proteins, usually by making them more compact or affecting their stability and activity within the cell [59]
It is produced solely in the cytochrome P450 system and actively pumped to mitochondria
