Article
The P23T cataract mutation causes loss of solubility of folded gammaD-crystallin.
Journal of molecular biology - 15 Oct 2004
Evans P, Wyatt K, Wistow G J, Bateman O A, Wallace B A, Slingsby C
Abstract excerpt
Mutations in the human gammaD-crystallin gene have been linked to several types of congenital cataracts. In particular, the Pro23 to Thr (P23T) mutation of human gammaD crystallin has been linked to cerulean, lamellar, coralliform, and fasciculiform congenital cataracts. We have expressed and purified wild-type human gammaD, P23T, and the Pro23 to Ser23 (P23S) mutant. Our measurements show that P23T is...
Topics
- Amino Acid Sequence
- Animals
- Cataract
- Circular Dichroism
- Guanidine
- Humans
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Protein Denaturation
- Protein Folding
- Protein Structure, Secondary
- Sequence Alignment
- Solubility
- gamma-Crystallins
