Figure 3 | Scientific Reports

Figure 3

From: Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

Figure 3

Scheme of the HSPA9 protein showing the localization of the mutations observed.

The HSPA9 (mortalin) protein has a short mitochondrial import sequence and two main domains, the nucleotide (ATP/ADP) binding domain and the substrate binding domain (Dores-Silva et al., 2015). The two amino acid substitution affect the nucleotide binding domain; the truncation mutation predicts the loss of part of the nucleotide binding domain and all of the substrate binding domain (unless the mRNA undergoes nonsense-mediated decay; see Results). The lower part shows a summary of the pathogenicity prediction software (PolyPhen-2, http://genetics.bwh.harvard.edu/pph2/) and PROVEAN, http://provean.jcvi.org/index.php) as well as the allelic frequencies in the ExAC project (exac.broadinstitute.org/gene/ENSG00000113013).

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