Wild and mutant protein structure comparison

Question

[smjsardar]

Is it possible for a mutant protein structure to be very similar to the wild-type structure and yet cause disease? If yes. Are there any research papers defending the above statement?

[Kevin Blighe]

It seems possible - yes. Also, even the wild-type protein can cause diseases due to variants elsewhere. For example, a nearby intergenic variant creates a new transcription factor binding site, which then increases expression of the wild-type protein, which causes disease.

You should search PubMed and/or via a search engine. I did a quick search and came across this, but do not know if it is exactly related: https://www.ncbi.nlm.nih.gov/pubmed/24723421