Figure 1 of Zhang, Mol Vis 2024; 30:175-187.


Figure 1. Pedigree, co-segregation, and the reverse transcriptase (RT)–PCR analysis for a novel variant c.963–13A>G in CLN3 in proband 0,191,609. A Pedigree and segregation analysis results. B RT–PCR analysis revealed an abnormal band (P1, red arrow) and a wild-type (WT) band (P2) in the proband and her mother, while her father showed only a WT band. Asterisks denote fragments for which no sequence information was obtained. C Schematic representation and partial sequence chromatogram of P1 containing 12-nt retention of intron 13(i13). D The Predicted 3D protein structures of CLN3 in the WT and mutant (MUT). One segment of α-helical secondary structures that involved residue W321 (red dot) in the WT was replaced by a loop structure (in purple) in the MUT. The dotted lines indicated the hydrogen bonds between the residues. The number represented the lengths of the hydrogen bonds.