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. 2017 Jun 1;7:2667. doi: 10.1038/s41598-017-02947-y

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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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(A) Pedigree structure of ICA family. The proband is noted by an arrow. Family members for which whole exome sequencing has been performed are noted by a star above the individual’s symbol. The genotype of identified variant for family members for which DNA sample was available is mentioned below the individual’s symbol. (B) Sanger sequencing traces (CC/TGA) showing the c.950 C > T (p.Arg193*) mutation in exon 6 of the CNGA2 gene. The segregation of this mutation has been confirmed in 12 available DNA samples (Five affected and seven unaffected individuals) from this family. (C) The amino-acid sequence CNGA2 (pArg193*) colored according to the conservation scores. Conservation scores were calculated by ConSurf tool¹⁸. ConSurf estimates the evolutionary conservation of amino acid residues in a peptide based on the phylogenetic relations between homologous sequences as well as amino acid’s structural and functional importance.