PMC:4385177 / 31812-32657 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4385177","sourcedb":"PMC","sourceid":"4385177","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4385177","text":"A summary of both candidate causal variants includes conservation scores (PhyloP and PhastCons), in silico predictions of pathogenicity (SIFT, PROVEAN, PolyPhen-2, and MutationTaster), and the location of the variant with respect to predicted functional domains of the protein (from UniProt). “Previously reported” refers to the whether the variant can be found in dbSNP, the NHLBI Exome Sequencing Project Exome Variant Server, 1000 Genomes, and Complete Genomics 69. Both variants are conserved and predicted to be damaging by all four prediction programs. Actual numerical scores provided by the in silico prediction programs are shown here in parentheses for the sake of completeness, and readers are referred to the programs’ websites for a detailed explanation of their meaning. Abbreviations are as follows: C, conserved; and D, damaging.","tracks":[]}