You also analyzed the STAT3 gene using gnomAD. What is the number of missense SNVs observed in this gene?

Check the point mutations found in the skin for STAT3 (COSMIC gene version: STAT3_ENST00000585517) in "Positive Data". What is the first mutation you can find? (Nucleotide substitution)?

Of the different substitutions, which one is the most common one in the STAT3 gene (gene version STAT3_ENST00000585517 in COSMIC)? (mutation distribution – substitution)

Which type of mutation is the most prominent one in the STAT3 gene (gene version: STAT3_ENST00000585517) according to the COSMIC database?

The mutations affecting amino acid position 299 of STAT3 (Gene version: STAT3_ENST00000585517) in the COSMIC database can cause multiple different amino acid changes – Which of the listed ones below is one of them?

You have investigated the STAT3 gene (version: STAT3_ENST00000585517) in the COSMIC database. What is (one of) the mutation(s) you find on a level of nucleotides at amino acid position 299?

In the genotyping assay you designed in exercise 4, assume you have a sample that is A/G heterozygous and you are doing a digest with the enzyme you selected. How many fragments would you see on the gel?

Use the enzyme you found for exercise 4 and perform a custom digest on NEBcutter. How many fragments are produced by the restriction enzyme if the enzyme cuts?

Consider the enzyme you selected for exercise 4. The enzyme only cuts when R is a/an ... ?

Consider the enzyme you selected for exercise 4. What is the recognition sequence of the enzyme?