Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

Syntaxin‐binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane. Studies have shown that pathogenic loss‐of‐function variants in this gene result in various types of epilepsies, mostly beginning early in life. We were interested to model pathogenic missense variants on the protein structure to investigate the mechanism of pathogenicity and genotype–phenotype correlations.

• Publication year

  2017

• Venue

  Molecular Genetics & Genomic Medicine

• Publication date

  2017-06-20

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/mgg3.304PMID 28944233PMCID 5606886
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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