Information theory has been extremely fruitful for describing binding sites in more than 50 genetic systems. I invented sequence logos with my first Werner H. Kirsten Student Intern Program high school student, Mike Stephens. Using information to measure the sequence conservation at each position across a binding site, they represent an average picture of a collection of binding sites. They replace consensus sequences for making a picture of what sites look like and can show which face of the DNA a protein binds to. The area under a logo is Rsequence.
Logos give only an average picture.
Bert Vogelstein showed that 2 of 20 normal people have the change, so it is indeed a polymorphism. This case convinced us that information theory would be useful in predicting splicing effects in key disease genes. With these sequence walkers, complicated splice junction mutations can be understood in seconds. One of my favorite cases is a low information content cryptic site lurking next to a strong normal site that is sitting on the end of an exon. Since the cryptic site is out of frame, the protein is destroyed.