Figure 4 | Scientific Reports

Figure 4

From: Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Figure 4The alternative text for this image may have been generated using AI.

Schematic genetic and protein structures of CRX and the location of the detected variants. The CRX gene (ENST00000221996.7) contains four exons that encode a 299 amino acid protein containing a homeodomain, WSP motif, and OTX tail (Hull et al. 2014). Eight variants detected in this study are presented. Three novel variants are shown in Italics: p.R43H, p.P145Lfs*42, and p.P197Afs*22.

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