Table 1.
Gene | DNA | Protein | PSSM | SIFT |
---|---|---|---|---|
SBEIIaA |
G5239A |
G427D |
6.6 |
0.09 |
|
C5256T |
H433Y |
22.3 |
0.00 |
|
G5267A |
W436* |
|
|
|
G5268A |
D437N |
7.9 |
0.04 |
|
G5429A |
E461K |
17.1 |
0.01 |
|
G5493A |
G482E |
27.1 |
0.00 |
|
C5801T |
H518Y |
-8.3 |
1.00 |
SBEIIaB |
G5011A |
G427D |
-0.04 |
0.50 |
|
G5020A |
R430H |
21.4 |
0.00 |
|
G5022A |
G431S |
25.2 |
0.00 |
|
C5025T |
H432Y |
-3.6 |
1.00 |
|
G5033A |
W434* |
|
|
|
G5040A |
D437N |
19.9 |
0.01 |
|
G5062A |
G444E |
17.0 |
0.00 |
|
G5065A |
S445N |
-4.7 |
1.00 |
|
G5069A |
W446* |
|
|
|
G5073A |
SJ |
|
|
|
G5168A |
R450K |
19.0 |
0.01 |
|
G5189A |
R457K |
19.0 |
0.01 |
|
G5203A |
E462K |
18.3 |
0.00 |
|
G5219A |
G467E |
27.7 |
0.00 |
|
G5233A |
G472R |
27.3 |
0.00 |
|
G5234A |
G472E |
27.7 |
0.00 |
|
C5240T |
T474I |
21.9 |
0.00 |
|
G5272A |
SJ |
|
|
C5582T | A521V | 4.8 | 0.33 |
DNA and protein refer to the nucleotide and amino acid changes resulting from the mutation. SJ refers to a splice junction mutation and the symbol * indicates a stop mutation. Mutation severity is predicted using the PARSESNP and SIFT programs [36,37]. Mutations are predicted to have a severe effect on protein function if PSSM scores are >10 and and SIFT scores are <0.05.