A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

Abstract

A novel R15S mutation caused congenital coralliform cataract in a Chinese family. R15S possessed similar properties to the wild type gammaD-crystallin, but its predicted increase of hydrophobicity and putative phosphorylation site could lead to protein aggregation, subsequently causing opacification in lens.