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. Author manuscript; available in PMC: 2019 Feb 1.
Published in final edited form as: Bone. 2017 Nov 21;107:161–171. doi: 10.1016/j.bone.2017.11.012

Figure 7. Molecular Data.

Figure 7

(A) The p.L322F polymorphism is predicted to be neutral with an evolutionary action of 17%, whereas the p.G518E mutation is predicted to be deleterious with an evolutionary action of 72%. The bars represent a reference set of variants found in 218 genes, annotated as polymorphisms or associated to disease in the UniProt database (http://www.uniprot.org/), and analyzed previously (21).

(B) The p.L322F and p.G518E genetic variants of ANO5 are predicted to involve the first and fourth transmembrane helices of the encoded protein.

(C) Electropherogram of the pathogenic variant, c.1553 G > A(R in the figure);p.Gly518Glu, identified in the patient as compared to electropherograms showing the wild type allele in both parents.