Table 1:
Summary of Mutations for Severe MTHFR Deficiency (Goyette et al.
1995)
|
Location
(bp) |
DNA
substitution |
Amino
acid Change |
|
167 |
CGA®CAA |
Arginine®Glutamine |
|
482 |
CGG®CAG |
Arginine®Glutamine |
|
559* |
CGA®TGA |
Arginine®Stop |
|
692* |
ACG®ATG |
Threonine®Methionine |
|
764* |
CCC®CTC |
Proline®Leucine |
|
792
& 5’ splice site |
GT®AT |
D19
amino acids |
|
985 |
CGC®TGC |
Arginine®Cysteine |
|
1015 |
CGC®TGC |
Arginine®Cysteine |
|
1081 |
CGC®TGC |
Arginine®Cysteine |
|
*Associated
with lowest enzyme activity levels (0-3%)
|
||