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. 2017 Aug 22;7:9064. doi: 10.1038/s41598-017-09276-0

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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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Identification of RAX Mutation in the family with ocular coloboma. (A) Pedigree. (B) Sanger sequencing confirmed the segregation of the homozygous missense mutation, c.113 T > C (p.I38T). (C) Evolutionary conservation of amino acid residues Ile38 in RAX. Alignments of the area of novel mutation, in various species, which showed the Isoleucine acid at position 38 is highly conserved. Sequencing alignments performed with Clustal Omega.