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Fig. 3 | BMC Ophthalmology

Fig. 3

From: Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report

Fig. 3

Identified mutation confirmed by Sanger sequencing. IV:1 (the patient) harboured a homozygous mutation (c.8483_8486del/c.8483_8486del), III1, III2 and IV:1 were identified with a heterozygous mutation (c.8483_8486del/−) (a). The amino acid sequence of the mutant usherin (b). The tertiary structure of usherin; 19 FN3, TM and PDZ-binding motif domains were lost in the truncated protein (c). The change in the folded state of the protein (d)

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BMC Ophthalmology

ISSN: 1471-2415

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