Table 3.
Mutations affecting enzyme functionality as predicted by PARSE-SNP application.
| Gene | Nucleotide change | Mutation effect | PSMM diff. |
|---|---|---|---|
| G483A | G66D | 32.06 | |
| SBEIIa-A | G485A | E67K | 10.05 |
| C1748T | P206S | 16.09 | |
| C1755T | A208V | 10.09 | |
| C2907T | Q301* | ||
| G5165A | W436* | ||
| G1916A | S. J. | ||
| SBEIIa-B | C1765T | A205V | 14.06 |
| G1948A | W220* | ||
| G511A | G62S | 32.01 | |
| G520A | D65N | 15.05 | |
| G1774A | A201T | 13.08 | |
| SBEIIa-D | C3693T | Q346* | |
| C3916T | H362Y | 18.04 | |
| G3952A | G374R | 22.08 | |
| G4000A | G390S | 14.01 | |
| G4024A | V398I | 14.07 | |
| G5278A | D462N | 28.06 | |
| G5335A | S. J. | ||
The symbol "*" indicates nonsense mutations. S. J.= Splice Junction.