Table 2.
Bioinformatic analyses of SCN4B variants identified in this study
| Variant | P.Gly8Ser | P.Ala145Ser |
|---|---|---|
| SNP ID | rs149868494 | NA |
| Associated disease | VT | VT |
| Frequency in 1000 Genomes | 0.30% | 0 |
| Frequency in gnomAD (east Asia) | 0.47% | 0 |
| Frequency in ExAC (east Asia) | 0.55% | 0 |
| SIFT_pred | T | D |
| PolyPhen | P | P |
| MutationAssessor_pred | L | M |
| FATHMM_pred | D | D |
| PROVEAN_pred | N | D |
| fathmm-MKL_coding_pred | D | D |
| MetaSVM_pred | D | D |
| MetaLR_pred | D | D |
| CADD | P | P |
Data analysis was performed using VEP (Variant Effector Predictor; https://useast.ensembl.org/info/docs/tools/vep/index.html)
SNP single nucleotide polymorphism, gnomAD the genome aggregation database, ExAC the exome aggregation consortium (ExAC) database, SIFT: D deleterious, T tolerated, Polyphen: D probably damaging, P possibly damaging, B benign, MutationAssessor: H high, M medium, L low, N neutral, FATHMM: D deleterious, T tolerated, PROVEAN: D deleterious, N neutral, fathmm-MKL: D deleterious, T tolerated, MetaSVM: D deleterious, T tolerated, MetaLR: D deleterious, T tolerated, CADD combined annotation dependent depletion, P pathogenic, NA data not available