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Table 1 Common large-effect mutations in FOCM and dopamine metabolism, their effects on the activities of the respective enzymes, and frequencies in selected populationsa

From: Using mathematical models to understand metabolism, genes, and disease

Gene/enzyme Mutation Activity relative to wild type Gene frequenciesb
MS A2756G 50 % 9 % (C), 16 % (US), 20 % (EU)
MS D919G 60 % 17 % (J), 55 % (US)
MTHFR C677T 30 % 51 % (I), 34.5 % (ME), 35 % (US)
MTHFR A1298C 68 % 33 % (I), 33 % (US)
TS 2rpt/3rpt 42 % 48 % (US), 40 % (EU), 8 % (C)
TS 1494del6 24 % 76 % (US), 33 % (C)
CBS M173V 38 % -
CBS A226T 13 % 4.5 % (AA)
CBS R548Q 60 % 0.6 % (S)
CBS T191M 10 % 14–75 % (H)
TH T245P 150 % -
TH T283M 24 % -
TH T463M 116 % -
TH Q381K 15 % Familial
DAT V382A 48 %  
DAT hNET 65 %  
DAT VNTR10 75 %  
  1. aFor references see [34,35]
  2. b US United States, EU Europe, C China, J Japan, I Italy, S Spain, AA African Americans, H Hispanics, ME Middle East
  3. CBS cystathionine β-synthase, DAT dopamine reuptake transporter, MS methionine synthase, MTHFR 5,10-methylenetetrahydrofolate reductase, TH tyrosine hydroxylase; TS thymidylate synthase