Updated: Nov 14 2012, 08:09am hrs
R Sowdhamini,

Associate professor, National Centre for Biological Sciences

These mutations are in important sites where the proteins are supposed to be interacting. If some chemical changes happen at interacting sites, we can imagine how strong the effects could be. We were able to explain the genetic mutations and how it could lead to a disease state from a structural perspective

John Mercer,

Visiting professor, Institute for Stem Cell Biology and Regenerative Medicine (inStem)

The location of these mutations make more sense as a result of the structure shown in this paper