Mutation Information  


The nature and location of the mutation identified in your patient determines whether it is a disease-causing mutation or an innocent polymorphism.
Information on mutations and genomic structure of genes can be found by following the steps below:
  • HOW TO FIND INFORMATION ABOUT MUTATIONS?
    1. You can find information about disease-causing mutations and polymorphisms/SNPs on the website of the Institute of Medical Genetics of the University of Wales:
      2. Look up your gene of interest in the alphabetical list of genes, and click on the link with the locus-specific database
      3. You now are linked to the locus-specific database with information on mutations
    2. A second website with information about disease-causing mutations and polymorphisms/SNPs is the website of the HUGO Mutation Database Initiative:
      2. Look up your gene of interest in the alphabetical list of genes, and click on the link in the column "INTERNET ADDRESS"
  • HOW TO FIND INFORMATION ABOUT GENE STRUCTURE?
    1. You can find information about the genomic structure (exon-intron structure) of all human genes, or protein structure (amino acids) on the Ensembl Genome Browser of the Sanger Genome Centre:
      2. Fill out your gene of interest, and click on "LOOKUP"
      3. Pick the correct match and click on the link
      4. You can see the transcript structure with the exons and introns now.
      5. If you want to have more detailed info about the genomic structure with exons and introns, click on "Exon information"
      6. If you want to have more detailed info about the amino acid and protein structure, click on "Protein information"
    2. A second website with information about the genomic structure or protein structure is the GENATLAS website:
      2. Type your gene of interest in the box behind "SYMBOL NAME", and click on FIND
      3. Click on the correct gene of interest
      4. You now see a diagram with the genomic structure of the gene
      5. If you want to have detailed information on all exons-introns, click on "SEE THE EXONS" (small green text in the right upper corner of the box)



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