Table 5 Distribution of mutations and mutation types in this study and four other large studies
This study | Berge et al [67] | Napolitano et al [38] | Tester et al [16] | Splawski et al [25] | |
|---|---|---|---|---|---|
Number of mutations | 64 | 37 | 233 | 211 | 177 |
KCNQ1 (%) | 34.3 | 42.6 | 48.6 | 41.7 | 39.4 |
KCNH2 (%) | 43.8 | 46.3 | 38.8 | 42.2 | 51.5 |
SCN5A (%) | 14.1 | 9.3 | 10.1 | 15.2 | 6.1 |
KCNE1 (%) | 4.7 | 1.9 | 1.7 | 0.5 | 2.3 |
KCNE2 (%) | 3.1 | 0.0 | 0.7 | 0.5 | 2.3 |
Mutation type | |||||
Missense (%) | 68.8 | 64.9 | 72.0 | 75.0 | 72.3 |
Nonsense (%) | 3.1 | 13.5 | 5.1 | 5.7 | 6.2 |
Deletion (%) | 9.4 | 2.7 | 14.1 | 2.5 | 5.0 |
Frameshift (%) | 14.1 | 13.5 | 6.1 | 11.4 | 9.6 |
Splice site (%) | 4.7 | 5.4 | 2.7 | 4.3 | 6.7 |
Compound heterozygotes (%)* | 1.4 | 0 | 3.9 | 5.4 | n.a. |