Functional Annotation of a Comprehensive Set of SCN2A Variants

Project: Research project

Project Details


We propose to develop and test a strategy to predetermine which amino acid substitutions in SCN2A lead to altered function in a high-throughput pooled screen. This strategy will couple saturation mutagenesis of genetic ‘hot spots’ and next-generation sequencing with an assay to determine the ability of cells transfected with a missense variant of SCN2A to survive when exposed to a potent NaV channel activator. The goal of this pilot study is to demonstrate proof-of-principle that we can create a comprehensive database for all possible substitutions in SCN2A that cause altered function. If successful, this approach will generate an allele characterization framework that can be scaled to accomplish genome-guided genotype-phenotype mapping.
Effective start/end date9/15/188/31/22


  • Broad Institute, Inc. (5001370-5500001215 // 5R21NS110355-02)
  • National Institute of Neurological Disorders and Stroke (5001370-5500001215 // 5R21NS110355-02)


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