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. 2016 Sep 15;19(4):386–395. doi: 10.1038/gim.2016.126

Figure 1.

Figure 1

Mutation analysis and BGN structure. (a) Pedigrees of the families with their respective mutations. Squares represent males, circles represent females, filled symbols represent aortic aneurysm/dissection and/or systemic involvement, half-filled symbols represent individuals with incomplete clinical data, and + or − sign denotes presence or absence of BGN mutation. The brackets represent an individual who was adopted into the family. (b) Location of BGN on the X chromosome and identified mutations. Deletions are marked with a red bar. ATP2B3 isoform 1 represents ENST00000359149. ATP2B2 isoforms 2 and 3 represent ENST00000370186 and ENST00000349466. (c) Conservation of residues on amino acid position 80 and position 303 in other species and in human DCN.