A novel mutation in transforming growth factor-beta induced protein (TGF Ip) reveals secondary structure perturbation in lattice corneal dystrophy

Abstract

A novel mutation (A620D) in transforming growth factor-beta induced protein (TGFβIp) is described, expanding the repertoire of mutations in this protein. Using model peptides, we demonstrated that A→D substitution leads to perturbation of the secondary structure that may be responsible for the amyloid formation in lattice corneal dystrophy.