Database of Known Medically-Relevant Mutations

From: Jacob Keller
Date: 27 September 2011 19:52

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



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From: Ethan Merritt


Clear?
       No.

Medically-relevant with references?
       http://www.nslij-genetics.org/search_omim.html
Ethan A Merritt


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From: Craig A. Bingman

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