Finding Mutations  

Angelique Bosse
Montgomery Blair High School
Silver Spring, Maryland 20901

  • Go to the Human Gene Mutation Database at
  • Click on the "Search now!" button
  • In the box next to "Enter keyword(s)" type in a protein such as "phenylalanine hydroxylase"
  • Click "Search"
  • Under "here is the result" click on "PAH"
  • Result is journal articles with information about mutations in the gene and a table of mutations
  • Under "Mutation type", click on "nucleotide substitutions (missense/nonsense)"
  • Result for phenylalanine hydroxylase is 218 specific examples of mutations showing both the nucleotide and amino acids mutated, resulting phenotype "phenyketonuria and hyperphenylalaninaemia", and journal references
  • Click on the number under "Reference" to get a list of references related to your mutation

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