Table 3.
Characteristics of mutations in CAD and C3H amplicons
|
Target |
Amplicon size |
Identified mutations |
Mutation frequency |
Exon size |
% of GC in exons |
Identified mutations in exon |
Type of mutation (exon) |
% Mutation saturation |
||
|---|---|---|---|---|---|---|---|---|---|---|
| Silent | Missense | Truncation | ||||||||
| CAD |
869 |
76 |
1/40 Kb |
620 |
50.0 |
67 |
15 |
51 |
1 |
22.5 |
| (22.4%) |
(76.1%) |
(1.5%) |
||||||||
| C3H |
981 |
79 |
1/44 Kb |
870 |
52.53 |
74 |
24 |
43 |
7 |
15.35 |
| (32.4%) | (58.1%) | (9.5%) | ||||||||
Silent mutations do not modify amino acids, missense mutations induce amino-acid modifications, truncation mutations induce a premature STOP codon in the reading frame. Percentage mutation saturation is calculated at the protein level as the number of amino acids modified compared to the total number of amino acids that can be potentially modified by EMS action.