IMAGE

Fig. 2

ID
ZDB-IMAGE-250425-12
Source
Figures for Huang et al., 2025
Image
Figure Caption

Fig. 2 WES identified a novel FBN1 mutation [NM_000138.5; c.7764 C > G: p.(Y2588*)] and thestructural reconstruction. (A). BAM illustration of WES in the proband’s family of four. The gray area indicated the second-generation capture coverage. At position c.7764, the C/G ratio is as follows: C: 103 (forward: 35 +, reverse: 68 -), comprising 47% of the total; G: 116 (forward: 42 +, reverse: 74 -), comprising 53% of the total. (B). The Sanger sequence of other 4 family members showed no mutation in c.7764. (C). Protein prediction models of WT FBN1 and p.Y2588* mutated FBN1. The p.Y2588* mutation leads to the substitution of the 2588th amino acid of the wild-type FBN1 protein with a premature stop codon, resulting in an FBN1 protein with only 2588 amino acids, thereby lacking 283 amino acids. (D). Structural models for the wild-type and mutant FBN1 proteins in 2487aa-2686aa region. The p.Y2588* variant also led to a more loosely arranged and structurally abnormal conformation in the 2487aa-2588aa region of the protein, prior to the premature termination

Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ BMC Genomics