SYNGAP1 Frequent de novo Missense Variant Alert — Study Opportunity for p.Gly344

Mutation: c.1030G>A, p.Gly344Ser

The Communication Trail: Connection is everything!

‍How is this possible?

The science of these mutations

‍Research. Research. Research.

  • Compare and contrast the characteristics of each individual to determine the span of the phenotype from one variant
  • Determine whether the mutant protein has a loss or gain of function
  • Determine the expression level of the mutant protein
  • Investigate whether the two alleles can be easily distinguished in patients
  • Potentially identify genetic modifiers that intensify or alleviate the disorder
  • Gain insights to assist with the classification of other single nucleotide changes in SYNGAP1 that are Variants of Uncertain Significance (VUS)
  • Further our understanding of SYNGAP1 biology
  • ‍Families: Help SRF drive this forward by raising funds now, syngap.fund/give
  • Researchers: Interested? Please submit a proposal to SRF by March 1 or September 1 for SAB review.

Learn more…

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SynGAP Research Fund Updates

SynGAP Research Fund Updates

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SynGAPResearchFund.com (est. 2018) improves the quality of life of #SynGAP patients via research & development of treatments, therapies & support systems.