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 % |