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Table 2 Identified mutation in GLB1 gene in the probands and the consequences of mutation using different bioinformatics analysis

From: Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

Chr Position Ref Alt Location Gene SNP_ID Function
3 33099713 G A exonic GLB1 rs72555360 nonsynonymous
Transcript_ID Exon cDNA Protein Transcript_ID Exon cDNA Protein
NM_000404 exon6 c.C601T p.R201C NM_001079811 exon6 c.C511T p.R171C
ESP_Frequency 1000g_freq SIFT Prediction Polyphen Prediction LRT_score LRT_pred
0.0002 . 0.01 Damaging 1 Damaging 0 Damaging
MutationTaster Prediction MutationAssessor Prediction FATHMM Prediction RadialSVM Prediction
1 A 3.435 Medium −4.76 Damaging 1.085 Damaging
SNP_ID Clinvar_ID Clinvar_ID Disease LR_score LR_pred VEST3_score CADD_raw
rs72555360 pathogenic RCV000000973.1 Juvenile_GM > 1 < _gangliosidosis 0.974 Damaging 0.947 4.289
CADD_phred GERP++_RS phyloP46way_placental phyloP100way_vertebrate SiPhy_29way_logOdds    
22.4 5.57 2.78 9.242 19.517