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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report

Fig. 3

Functional analysis of the pathogenic variant PDE3A-p.Gly449Asp. a The peptide sequence of PDE3A exon 4, which harbours the pathogenic variant cluster (red-coloured region), and the phosphorylation sites Ser428 and Ser438 (shown in a green colour) near the altered residues are shown. Reported pathogenic variants causing autosomal dominant hypertension with brachydactyly type E syndrome are shown in red. Our novel pathogenic variant is shown in blue. b In silico structural modelling of the two variants (p.Gly449Val-reported, p.Gly449Asp-novel) compared with the wild type in the PDE3A protein

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BMC Medical Genetics

ISSN: 1471-2350

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