Table 4.
Summary of J wave syndrome probands carrying calcium channel gene mutations G37R and S143F.
| CACNA1C-G37R | CACNB2b-S143F | |
|---|---|---|
| reported ID | rs34534613 | rs150528041 |
| variant type | missense | missense |
| nucleotide change | c.109G > A | c.428C > T |
| exon location | 2 | 5 |
| MAF | ||
| GnomAD | 0.003464 | 0.000510 |
| ExAC | 0.007385 | 0.000509 |
| 1000 Genomes | 0.000399 | 0.000399 |
| SIFT | ||
| score | 0.000 | 0.010 |
| prediction | deleterious | deleterious |
| PolyPhen-2 | ||
| score | 0.967 | 0.730 |
| prediction | probably damaging | possibly damaging |
| Mutation Taster | ||
| score | 1 | 1 |
| prediction | disease causing | disease causing |
| MetaLR | ||
| score | 0.903 | 0.703 |
| prediction | damaging | damaging |
| REVEL | ||
| score | 0.655 | 0.611 |
| prediction | likely disease causing | likely disease causing |
| ClinVar | ||
| score | two stars | a star |
| prediction | benign/likely benign | uncertain significance/likely benign |