I agree with Ethan that this is a niche that OMIM fills with some (considerable) degree of success.
http://www.omim.org/ Uniprot is also covering this in more detail, both in individual protein records, and in aggregate, e.g. http://www.uniprot.org/docs/humpvar On Sep 27, 2011, at 1:52 PM, Jacob Keller wrote: > Dear Crystallographers, > > does anyone have a favorite site which lays out in a clear way all of > the known medically-relevant or phenotype-changing mutations of a > given protein and their phenotypes with references? Some of the > existing sites are very busy graphically and somewhat difficult to > interpret, making what would seem to be a simple task take much > longer... > > Jacob Keller > > -- > ******************************************* > Jacob Pearson Keller > Northwestern University > Medical Scientist Training Program > cel: 773.608.9185 > email: j-kell...@northwestern.edu > *******************************************
