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.