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Fig. 4 | BMC Medical Genetics

Fig. 4

From: A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing

Fig. 4

The conserved domains analysis for GPR98 amino acid residues wild type and its mutant protein c.6912dupG: p.Leu2305Valfs*4. The conserved domains analysis was performed through the online system (https://www.ncbi.nlm.nih.gov/Structure/cdd/wrpsb.cgi). Wild type protein contains domains Laminin-G-3, EPTP, Calx-beta (green box), and 7TM-GPCRs, whereas mutant protein only contains domains Laminin-G-3, and Calx-beta, which loses almost two-thirds of amino acid residues including partial Calx-beta, and whole EPTP and 7TM-GPCRs. Laminin-G-3: Laminin G domain; 7TM-GPCRs: seven-transmembrane (7TM) G protein-coupled receptors (GPCRs); GPS: GPCR proteolysis site (motif). “p.L2305 fs” indicates “p.Leu2305Valfs*4”

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