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Fig. 4 | BMC Ophthalmology

Fig. 4

From: Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2

Fig. 4

a Schematic illustration of the exon pathogenic variants identified in this study along the USH2A isoform b protein domains. SP: signal peptide; Lam GL: Laminin G-like domain; Lam NT: Laminin N-terminal; EGF Lam: EGF-like domain; FN3: fibronectin type-III; LamG: Laminin G domain; TM: transmembrane region; PDB: PDZ-binding domain b Amino acid sequence alignments obtained by Clustal Omega software. Exon missense mutations in this study p.Trp2744Cys (c.8232G > C) and p.Asp3927Gly (c.11780A > G) in Human USH2A gene aligned with other species including Troglodyte, Zebrafish, Chicken, Mulatta, Mouse and Bovine

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