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. 2017 May 3;7:1416. doi: 10.1038/s41598-017-01641-3

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Phenotype/Genotype of the p.G202V HAND2 within the affected family. The pedigree (A) was annotated using the clear squares and circle for healthy males and females in the family. The marriages between first-degree cousins were annotated as red lines, and the affected individuals with the appropriate symbols. The p.G202V variant was indicated by arrow on all affected individuals. All deceased individuals were annotated with black strikethrough squares or circles. Numbers underneath each refer to the code given for each DNA sample corresponding to the individual. (CAD: coronary artery disease, TOF: tetralogy of Fallot, VSD: ventricular septal defect). Chromatograms (B) showing Sanger sequencing results for WT and the p.G202V variant. The boxed region corresponds to the heterozygous C > A nucleotide change read with the reverse primer. Sequence conservation of the G202 amino acid at position 202 between the HAND proteins (HAND1 and 2) using the clustalw tool (www.ebi.ac.uk/Tools/msa/clustalw2/). The Glycine residue is boxed within the highly conserved C-terminal domain while the conserved bHLH domain is marked with an arrow (C). The genotype and phenotype of the extended family members are listed along the minor allele frequency (MAF) and the in silico predictions of the mutation (D).