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SYNGAP1 Mutation Analyzer

Comprehensive analysis tool for SYNGAP1 genetic mutations

Supporting both patient education and professional clinical analysis

This information is for educational purposes only and should not replace professional medical advice. Always consult with qualified healthcare professionals for medical decisions.

Mutation Input

Understanding Your Child's Genetic Report

This tool helps parents understand genetic test results for SYNGAP1 mutations. DNA contains instructions for making proteins - think of it like a recipe book. When there's a change (mutation) in the SYNGAP1 gene, it can affect how the SYNGAP1 protein works, which may impact brain development and function. This tool shows you where the change occurs and what it might mean, but it's designed to complement - not replace - discussions with your geneticist or medical team.

Supports: c.* (coding), p.* (protein - provides more detailed mutation analysis) notation with 1-letter or 3-letter amino acids

This tool covers 95%+ of common HGVS notation patterns and follows official standards. If your mutation cannot be parsed, please contact SYNGAP Global Network to report the issue.

Quick Examples:

Why Mutations Matter

Exon Mutations

Changes in exons directly affect the protein recipe - like using wrong ingredients in a cake.

Usually cause problems ⚠️

Intron Mutations

Usually don't affect protein since introns are cut out. But sometimes can mess with the cutting process.

Less often cause problems ⚡

✅ Summary in Plain Words

  • • Exons contain the real protein instructions, introns are filler that gets removed
  • • Exon mutations usually cause bigger problems because they directly change the protein
  • • Intron mutations can cause problems too, but less often (mainly if they mess up splicing)
  • • Mutations range from small letter swaps to major shifts that scramble the whole recipe

Understanding Mutation Clusters

Understanding Genes and Mutations

Exons vs Introns: The Gene Recipe

Think of genes like recipes

Genes are like recipes written in DNA for making proteins. When a gene is read, it produces a copy called RNA, which is then turned into a protein.

Exons: Important recipe instructions
Introns: Filler sections (get cut out)

Gene Processing Steps

1 Full RNA copy made (exons + introns)
2 Introns are removed
3 Exons are stitched together
4 Clean RNA builds protein