Research Article

Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome

Figure 1

Bioinformatic analysis, domains and protein structure prediction of the novel variant in the SEMA3A gene. (a) Score of the novel damaging variant c.814Gā€‰>ā€‰T (p.D272Y) in Polyphen v.2. (b) Cross-species conservation of SEMA3A around p.D272 is displayed. (c) The structure domains of SEMA3A. The arrow below the domains on the left indicates the putative plexin binding region, the right is the homodimer interface where polypeptide binds, and the novel variant site of SEMA3A is located at the middle. (d) Protein structure prediction of wild-type and mutant SEMA3A.