Global Journal of Medical Research, F: Diseases, Volume 22 Issue 4
L163F Neutral 0.376 2 Disease 0.739 5 E168K Disease 0.602 2 Disease 0.896 8 Decrease 9 G198D Disease 0.877 8 Disease 0.948 9 Decrease 8 A293E Neutral 0.411 2 Disease 0.675 4 T299A Neutral 0.298 4 Disease 0.633 3 R307C Neutral 0.372 3 Neutral 0.489 0 V316F Disease 0.821 6 Disease 0.916 8 Decrease 3 M339I Disease 0.522 0 Disease 0.813 6 Decrease 7 G360R Disease 0.734 6 Disease 0.759 5 Decrease 4 P373L Disease 0.635 3 Disease 0.612 2 Decrease 7 Th e structural impact of the SNPs on protein structure and function was investigated using Project hope. Eleven which were damaging, disease related and affects the protein stability were analyzed using Project Hope the results were shown in Table (5): Table (5): The effect mutation on protein sing Project Hope prediction SNP ID 3D structure Effect rs138558042 Proline into a Leucine at position 373 The damaging effect is due to increased size and conservancy. Prolines are known to have a very rigid structure, mutation changes a proline with such a function into another residue, thereby disturbing the local structure. rs368717991 Glycine into a Arginine at position 360 The damaging effect is due to difference in charge the mutation introduces a charge, this can cause repulsion, the mutant residue is bigger, this might lead to bumps. The torsion angles for this residue are unusual mutation into another residue will force the local backbone into an incorrect conformation and will disturb the local structure. rs139501220 Methionine into a Isoleucine at position 339 The damaging effect is due to wild- type and mutant amino acids differ in size. The mutant residue is smaller; this might lead to loss of interactions. rs199927284 Valine into a Phenylalanine at position 316 The damaging effect is due to, mutant amino acids increase in size leading to the loss of interactions. 20 Year 2022 Global Journal of Medical Research Volume XXII Issue IV Version I ( D ) F © 2022 Global Journals Computational Analysis of Possibly Pathogenic Non-Synonymous Single Nucleotide Polymorphisms Variants in HGD Gene
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