Fig 1.
Schematic representation of workflow.
Table 1.
List of PTB-related genes and proteins extracted from the NCBI database with retrieval of genomic information.
Fig 2.
SNPs in the identified PTB-related genes.
Bubble plot showing identified PTB-gene wise SNPs, exonic-SNPs and filtered exonic-SNPs. Each bubble size stands for the total count of SNPs.
Fig 3.
Downstream functional effect prediction of pathogenic SNPs based on various in-silico tools.
A. CNN1, B. COL24A1, C. IQGAP2, and D. SLIT2.
Fig 4.
Distribution of rare nsSNPs based on transcript sequences.
Filtered genes are shown based on pathogenic SNPs extracted through annotation strategies and their respective ENSEMBL transcripts versions (Tr).
Table 2.
Rare nsSNPs extracted on the basis of MAF and downstream functional effects of PTB-related genes.
Table 3.
Transcript sequence-based functional impact analyses of rare nsSNPs of PTB-related genes.
Fig 5.
Histogram and scatterplot of rare nsSNPs of PTB-related gene mutations in comparison with functional impact analyses.
The top-left section describes the mean and standard deviation values of various in-silico algorithms used to calculate the impact of mutations on protein stability using a normal distribution pattern. The remaining sections compared scatterplots between in-silico algorithms to determine how pathogenic nsSNPs in PTB-related genes affect protein stability.
Table 4.
Transcript-based computation of changes in free energy of amino acids of rare nsSNPs of PTB-related genes.
Table 5.
Evolutionary conservation analyses and protein structure prediction of rare nsSNPs of PTB-related genes.
Table 6.
PDB structural coverage of identified PTB-related genes.
Table 7.
Protein-BLAST alignment of CNN1 isoform 2 sequence.
Table 8.
Top 5 templates of CNN1 isoform 2 by PHYRE2 tool.
Fig 6.
2D Ligplot showing molecular docking interactions of CNN1 isoform 2 with PTB-drugs.
Protein-ligand based graphical depiction showing the potential interacting residues of CNN1 protein with Allylestrenol, Hydroxyprogesterone caproate, Retosiban, Ritodrine and Terbutaline.
Table 9.
Docking-guided molecular mechanics and estimation of ligand binding energies of PTB-related drugs with CNN1 isoform 2.