Single amino acid substitutions away from the active site causing disease.
Posted 08 March 2011 - 12:30 PM
Posted 08 March 2011 - 11:18 PM
I know substitutions in the GJB 2 gene lead to hearing loss and some other disorders.
A list of allelic variants can be found on OMIM
However, I am not sure, how many of these substitutions are in the active sites.
If there are, drop me a PM please...
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Posted 09 March 2011 - 03:44 AM
How about sickle cell anemia? Many variants of the disease are caused by single amnio acid substitutions in the hemoglobin beta subunit, e.g. E->V at position 6.