Table 1.
Pathogenic prediction of the p.V1435M mutation
| Computational prediction of pathogenicity on p.V1435Ma | Allele frequency in control exome databaseb | ||||
|---|---|---|---|---|---|
| PolyPhen2 (HumVar) | SIFT | MutationTaster | HGVD | ESP6500 | ExAc (all) |
| 1 (pathogenic) | 0 (pathogenic) | Disease causing (score 0.999) | 0 | 0 | 0 |
a
The V1435M mutation was predicted to be damaging by the following web tools: PolyPhen2 (http://genetics.bwh.harvard.edu/pph2/), SIFT (http://sift.jcvi.org/), and MutationTaster (http://www.mutationtaster.org/).
b
Allele frequencies in the following databases are shown: Human Genetic Variation Database (http://www.genome.med.kyoto-u.ac.jp/SnpDB/), NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), and Exome Aggregation Consortium Browser (http://exac.broadinstitute.org/). The number of control exomes showing V1435M variation is reported.