A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

Figure 5

Sclerostin model for wild type (a) and mutant sclerostin protein (b) where sclerostin protein was truncated at Asparagine (ASP) amino acid at codon 32 to present premature stop codon (PTC) D32X resulting in the discovered c.87_88insC mutation.

(a) Normal sclerostin protein

(b) Truncated sclerostin protein