Protein truncation analysis

Protein truncation tests are often used to analyze disease-related mutations, for example, in cancer where the mutation results in a nonfunctional protein. From protein truncation tests, we can conclude whether there is a mutation in a particular part of the gene that results in protein truncation; however, we do not have information regarding where exactly the mutation is located and what is the resulting DNA sequence (for example, it could be a substitution creating a stop codon or a deletion resulting in a frameshift and then a stop codon or others).

To find out more information regarding the mutation, we need to perform DNA sequencing as a validation method.