Global Journal of Medical Research, F: Diseases, Volume 22 Issue 4

KNG1 kininogen 1 PAH phenylalanine hydroxylase TERF1 telomeric repeat binding factor 1 ANG Angiogenin ADH6 alcohol dehydrogenase 6 UGT2B10 UDP glucuronosyltransferase family 2 member B10 The SNPs of the HGD gene systematically examined in this study were retrieved from the NCBI SNP database. The protein was retrieved from UniProtKB. The human HGD gene comprises a total of 423 SNPs out of that 348 were found to be synonymous, 75 were missense SNPs (nsSNPs). Analysis of the nsSNPs by SIFT predicts 35 as deleterious and 40 as tolerated ones. Using Provean only 30 were deleterious while 5 SNPs were neutral. Taking the deleterious nsSNPSs to Polyphen-2,25 nsSNPs were damaging (22were probably damaging and 3 were possibly damaging), while 5 were benign. Results were shown in Tables (2) and (3). Table 2: The Results of Different Software Software Results Retrieved SNPs 348 synonymous and 75 non- synonymous SIFT 35 Deleterious and 40 Tolerated Provean 30 deleterious 5 neutral Polyphen-2 22 probably damaging 3 possibly damaging 5 benign SNPs & GO and PHD SNPs 11 SNPs had a disease association 14 neutral Table 3: List of nsSNPs predicted to be deleterious by SIFT, Provean, and PolyPhen-2coding region of HGD gene SNP ID Amino Acid Change SIFT prediction SIFT Score PROVEAN Prediction (cutoff= -2.5) PROVEAN score POLYPHEN-2 Prediction POLYPHEN- 2 Score rs138558042 P373L Deleterious 0.002 Deleterious -9.802 Probably Damaging 1 rs368717991 G360R Deleterious 0 Deleterious -7.572 Probably Damaging 1 rs139501220 M339I Deleterious 0.002 Deleterious -3.677 Probably Damaging 0.976 rs143396290 D326N Deleterious 0.045 Neutral -2.162 rs199927284 V316F Deleterious 0.001 Deleterious -4.804 Probably Damaging 0.999 rs372084813 L122F Deleterious 0.001 Deleterious -5.44 Probably Damaging 1 rs201529624 P114R Deleterious 0.186 Neutral -0.592 rs201529624 P308R Deleterious 0.016 Deleterious -7.053 Benign 0.311 rs143556739 R307C Deleterious 0.047 Deleterious -3.91 Possibly Damaging 0.618 rs143556739 R113C Deleterious 0.047 Deleterious -4.403 Probably Damaging 0.999 rs372420052 T105A Deleterious 0.023 Neutral 0 rs372420052 T299A Deleterious 0.025 Deleterious -4.913 Probably Damaging 0.996 rs148641817 A293E Deleterious 0.014 Deleterious -3.147 Possibly Damaging 0.933 rs148641817 A99E Deleterious 0.014 Deleterious -7.351 Possibly Damaging 0.618 18 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 rs200382812 L85M Deleterious 0.048 Deleterious -7.378 Probably Damaging 0.994 rs199536408 G41D Deleterious 0 Deleterious -5.638 Probably Damaging 1