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