Fig. 3

Rare variants of JAG1 identified in patients. Human JAG1 protein structures with the location of the variants identified are shown above the diagram. The amino acid positions of the putative JAG1 functional domains are shown below the protein diagram. Blue box represents the signal peptide, and the green box indicates the DSL domain. In addition, the dark blue boxes show the EGF repeat domains, and the orange box represents the transmembrane domain. Four variants (p.P269R, p.N504S, p. M969T, p. H1013L) of JAG1 were identified and were conservative in different species, including human, mouse, dog and zebrafish. The amino acid residue altered by the mutation is shown in the red frame. All variants were confirmed by Sanger sequencing and are shown in the red frames. The variant p. N504S is located on the EGF repeats domain, and the other three variants are not in the functional domain