Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients

Figure 3

(a) Pedigree of ADCC family C The solid black arrow indicates the proband (III.3). (b) Photographs of the proband's (III.3) lens are shown. (c) Schematic representation of the filter strategies employed in our study. (d) Sanger sequencing results. (e) Multiple protein sequence alignment. (f) The identified variant, CRYGD: c.475delG; p.A159Pfs∗9, generated a frameshift and premature termination from a position 9 codons downstream (p.A159Pfs∗9) of the variant; these alterations resulted in a protein that was reduced to half the length of the full-length protein. (g) The structures of the CRYGD proteins were modelled in PyMOL.

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