Figure 3 of Li, Mol Vis 2012; 18:504-511.

Figure 3. A FBN1 mutation in exon 18. A-C: A heterozygous A>G transition (indicated by the arrow) resulted in the substitution of tyrosine by cysteine (Y754C) in the proband, patient II:3 and III:3 respectively. D-F: The corresponding normal sequence in the unaffected family member II:5, III:1, and spouse II:4, respectively. G: The corresponding normal sequence in a healthy control. H: The sequence alignment of FBN1 orthologs surrounding mutated site using ClustalW. The tyrosine754 of human FBN1 protein is highly conserved in several species. These sequences were selected from the NCBI database.