Figure 3. A novel FBN1 mutation in exon 29. A-C show a heterozygous T>C transition (indicated by the arrow) resulting in the substitution of serine by proline (S1235P) in
the proband, patient II:2, and the proband’s daughter, IV:4, respectively. D-F show the corresponding normal sequence in unaffected family members II:7 and III:4 and spouse II:6, respectively. G shows the corresponding normal sequence in a healthy member. H displays the sequence alignment of FBN1 orthologs surrounding the mutated site using ClustalW. The serine1235 of the human FBN1 protein is highly conserved in several
species. These sequences were selected from the NCBI database.