Article
A temperature-sensitive mutation of Crygs in the murine Opj cataract.
The Journal of biological chemistry - 23 Mar 2001
Sinha D, Wyatt M K, Sarra R, Jaworski C, Slingsby C, Thaung C, Pannell L, Robison W G, Favor J, Lyon M, Wistow G
Abstract excerpt
In Opj, an inherited cataract in mice, opacity is associated with a mutation in Crygs, the gene for gammaS-crystallin, the first mutation to be associated with this gene. A single base change causes replacement of Phe-9, a key hydrophobic residue in the core of the N-terminal domain, by serine. Despite this highly non-conservative change, mutant protein folds normally at low temperature. However, it exhibits a...
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