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. 2008 Nov 17;14:2067–2075.

Figure 3.

Figure 3

Direct sequencing analysis of the coding region of the USH2A gene. A: Left, heterozygous one base insertion mutation c.99_100insT (p.R34fs) detected in patient 073036; right, the corresponding wild-type sequence. B: left, Sequence shows the heterozygous one base deletion mutation c.8483delC (p.S2828fs) identified in patient 073041 and right, the corresponding wild type sequence. C: Sequence presents the heterozygous nonsense mutation c.9450G>A (p.W3150X) detected in patient 073041. D: Sequence shows the heterozygous missense mutation c.11806A>C (p.T3936P) identified in patient 073021. E: upper, Sequence presents the heterozygous splicing site mutation c.8559-2A>G identified in patient 073021, lower, the corresponding complimentary strand sequence.