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

ABSTRACT:

Background

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.

Methods

We report 11 patients with pathogenic de novo mutations in STXBP1 identified in the first 4293 trios of the Deciphering Developmental Disorder (DDD) study, including six missense variants. We analyzed the structural locations of the pathogenic missense variants from this study and the literatur

SUBMITTER: Suri M 

PROVIDER: S-EPMC5606886 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature