Angelique Bosse
Montgomery Blair High School
Silver Spring, Maryland 20901
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Go to the Human Gene Mutation Database at
http://www.uwcm.ac.uk/uwcm/mg/hgmd0.html
- 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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