Figure 2
From: A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease
Position of the ZIC3 variant and the corresponding protein structure change. (a) The position of the mutation at the end of exon one, corresponding to the third amino acid of the second C2H2 ___domain of the ZIC3 protein. (b) Alignment of multiple ZIC3 protein sequences among several species. The altered amino acid boxed in yellow is completely conserved evolutionarily across various species. Homo. S: Homo sapiens; Mus. M: Mus musculus; Danio. R: Danio rerio; Numida. M: Numida meleagris; Columba. L: Columba livia; Anas. P: Anas platyrhynchos; Heterocephalus. G: Heterocephalus glaber. (c,d) Comparison of the wild-type ZIC3 protein structure with the mutant using SWISS-MODEL. Panel c shows that wild-type ZIC3 harbors a cysteine at amino acid No. 297, and the ZIC3 protein structure contains four ligands. Panel d indicates that variant changed the amino acid residue from cysteine to phenylalanine, indicating that only three ligands exist in the mutant protein.
