Single amino acid substitutions away from the active site causing disease. - (Mar/08/2011 )

Anyone know of a disease causing protein with a mutation away from the active site causing the disease?

The ΔF508 mutation in CFTR causing cystic fibrosis?

Looking more for a substitution

Hey Jerseysurfer,

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...

Sorry -- I read the question ("mutation") rather than the thread title...

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.