Figure 3 of Xu, Mol Vis 2011; 17:1537-1552.


Figure 3. A direct sequencing analysis of the coding region of the Usher syndrome type IIA (USH2A) gene. A: Sequence presents the heterozygous missense mutation c.2802T>G (p.C934W) detected in patient 077006. B: Sequence shows the heterozygous missense mutation c.8232G>C (p.W2744C) identified in patient 077006. C: Sequence presents the heterozygous nonsense mutation c.1876C>T (p.R626X) identified in patient 073001. D: Sequence shows the heterozygous nonsense mutation c.3788G>A (p.W1263X) detected in patient 019082. E shows the heterozygous, one-base-deletion mutation c.6249delT (p. I2084fs) in patient 073001; F is the corresponding wild-type sequence. G presents a heterozygous 7 bp deletion mutation c.9492_9498del TGATGAT (p. D3165fs) in patient 019082; H shows the corresponding wild-type sequence. I presents the heterozygous, one-base-deletion mutation c.7123delG (p. G2375fs) in patient 019092; J shows the corresponding wild-type sequence. K: Sequence shows the heterozygous nonsense mutation c.14403C>G (p. Y4801X) detected in patient 019092.