Table 3.
Summary of single calcium mutation in ERS probands.
| CACNA1C | CACNB2b | |||||||
| Variant | P817S | G37R | G490R | E850del | S160T | A170V | S503L | R571C |
| Reported ID | rs112532048 | rs34534613 | rs121912775 | rs575583988 | rs149253719 | NA | rs137886839 | rs1060499847 |
| Type | Missense | Missense | Missense | Frameshift | Missense | Missense | Missense | Missense |
| Change in nucleotide | 2449C>T | 109G>A | 1468 G>A | 2548-2550del | 479G>C | 509C>T | 1508C>T | 1711C>T |
| Exon location | 17 | 2 | 10 | 19 | 5 | 6 | 13 | 13 |
| MAF | ||||||||
| GnomAD | 0.003488 | 0.004555 | 0.000162 | 0.00042 | 0.000581 | NA | 0.001099 | NA |
| ExAC | 0.003534 | 0.007385 | 0.000809 | 0.000526 | 0.001007 | NA | 0.001162 | NA |
| 1000 Genomes | 0.001597 | 0.000399 | 0.000399 | NA | 0.001797 | NA | 0.001398 | 1.62686e-05 |
| SIFT | ||||||||
| Score | 0.212 | 0 | 0.133 | NA | 0.01 | 0.062 | 0.001 | 0 |
| Prediction | Tolerated | Damaging | Tolerated | NA | Damaging | Tolerated | Damaging | Damaging |
| MetaLR | ||||||||
| Score | 0.839 | 0.9028 | 0.83 | NA | 0.3893 | 0.5276 | 0.5305 | 0.6806 |
| Prediction | Damaging | Damaging | Damaging | NA | Tolerated | Damaging | Damaging | Damaging |
| MutationTaster | ||||||||
| Score | 0.99975 | 1 | 0.999727 | NA | 1 | 1 | 0.999999 | 1 |
| Prediction | Disease causing | Disease causing | Disease causing | NA | Disease causing | Disease causing | Disease causing | Disease causing |
| PolyPhen2 | ||||||||
| Score | 0.999 | 1 | 1 | NA | 0.787 | 0.007 | 0.996 | 1 |
| Prediction | Probably damaging | Probably damaging | Probably damaging | NA | Probably damaging | Benign | probably damaging | Probably damaging |
| FATHMMM | ||||||||
| Score | −3.83 | −3.88 | −3.33 | −1.67 | −1.81 | −1.85 | −2.17 | |
| Prediction | Damaging | Damaging | Damaging | Damaging | Damaging | Damaging | Damaging | |