Article
The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract.
PloS one - 1 Jan 2012
Vendra Venkata Pulla Rao, Chandani Sushil, Balasubramanian Dorairajan
Abstract excerpt
BACKGROUND: Human γS-crystallin is an important component of the human eye lens nucleus and cortex. The mutation V42M in the molecule causes severe congenital cataract in children. We compare the structure of the mutant protein with that of the wild type in order to understand how structural chan...
Topics
- Amino Acid Substitution
- Calcium
- Cataract
- Humans
- Light
- Models, Molecular
- Mutation
- Protein Multimerization
- Protein Stability
- Protein Structure, Quaternary
- Protein Structure, Tertiary
- Scattering, Radiation
- Temperature
- gamma-Crystallins