Molecular interpretation of genomic changes

from genotype to phenotype

The last time ...

Spoiling the sequence - a pre-exercise game

Check out the codon table.
  1. SST ; make a missense mutation (change codon to code for different amino acid type)
  2. NBDY ; make a silent mutation (change codon to code for the same amino acid type).
  3. SPCS1; insert a nucleotide
  4. PYY ; delete a nucleotide
  5. IAPP; delete 3 nucleotides (codon)
  6. INS ; make a stop codon in the middle of the sequence (nonsense mutation
  7. PRL ; make a "readthrough" mutation
Paste into ExPasy translation tool , and break the correct sequence!

Central dogma - a little more thoroughly


In all exercies, the task is to find the position on the genome, explain the impact of mutation, and make a shortish presentation.

You can find (and illustrate) the position on the genom using UCSC Genome Browser.

If the impact of the mutation is protein modification, use PyMol to make the illustration.

Some general hints/advice

when using UCSC GB

when using PyMol

In all exercises:

find the position in the genome browser. What is the consequence of the given mutation? (Use the codon table as appropriate; beware of the direction of translation.) Which mutations in the same place would have no effect? (Give an example)