Computational analyses
We utilized wAnnovar for analyzing the exome data in order to prioritize
variants. The output file of this analysis included frequency of each
variant in large public databases as well as predictions of
pathogenicity of missense variants by multiple software. Pathogenicity
scores for all missense variants according to REVEL were examined by
downloading individual chromosomal files. The computational tools
Predictprotein and Protfun, were used to predict the secondary
structure, identify motifs and suggest possible protein function.
Multiple sequence alignments of the protein sequences were performed
using Clustal Omega.