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. 2018 Sep 6;8:13312. doi: 10.1038/s41598-018-31511-5

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© The Author(s) 2018

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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USH2A mutations and genotype-phenotype correlations. (a) Schematic representation of usherin structure showing the mutated residues located within different protein domains. Isoform “a” is an N-terminal fragment of isoform “b”. Mutations in orange font are implicated in USHII, mutations in fuchsia font are associated with both non-syndromic RP and USHII and mutations in black font are associated with non-syndromic RP. SP: signal peptide; LamGL: LamG-like jellyroll fold; Lam NT: Laminin N-terminal; EGFLam: Laminin-type EGF-like (LE); FN3: fibronectin type-III; LamG: Laminin G; TM: Transmembrane domain; PDB: PDZ-binding domain. (b) Phenotype-genotype correlations of usherin mutations. Variants responsible of non-syndromic RP are represented in blue. The variant p.Cys759Phe has been detected in combination with other deleterious alleles in nine patients with non-syndromic RP. Mutations shown in fuchsia color have been detected in individuals with both non-syndromic RP and USH depending on the nature of the second variant. Variants responsible of USHII are shown in orange.