FIGURE

Figure 1

ID

ZDB-FIG-200725-20

Publication

Toms et al., 2020 - Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

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Figure 1

Position and type of USH2A variants in participating patients. Schematic diagram of the usherin protein domain architecture and USH2A exon structure. The genetic position and type of mutation of the identified USH2A variants in the patients within this study are presented as lollypops at the corresponding location in the usherin protein. Black labels correspond to nonsense mutations, white labels correspond to missense variants, diagonal lines correspond to splice site variants and grey labels correspond to insertion and deletion frameshift changes. LamGL, laminin globular-like domain; LamNT, N-terminal laminin domain; LamEGF, laminin-type epidermal growth factor-like domains; FN3, fibronectin III domains; TM, transmembrane domain; PDZ, PDZ-binding domain.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Hum. Mol. Genet.