Table 2.
Pathogenicity prediction of the sequence variation using six different algorithms
| Gene Name | Genomic Position and Base Change | cDNA Position | Codon change | Amino acid change | No. of Patients with the change (H: homozygous, h: heterozygous) | Pathogenicity prediction | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||||||
| PROVEAN | Poly Phen2 | Mutation Taster | IMutant2.0 | SNAP2 | Mut Pred2 | ||||||||
|
|
|
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| ΔΔG (kcal/mol) DDG value | Stability Prediction SVM2 | Score | Prediction | ||||||||||
| MYOC | g.171652247G>C | c.365 | GGC>GCC | p.Gly122Ala | 1 (h) | Neutral | Benign | Polymorphism | -72 | Neutral | 0.52 | Decrease | 0.061 |
| CYP1B1 | g.38071007T>C | c.1347 | GAT>GAC | p.Asp449= | 1 (h) | Not applicable | |||||||
| OPTN | g.13136745 G>A | c.1613 | GGA>GAA | p.G538E | 3 (1H, 2h) | Deleterious | Probably damaging | Disease Causing | 0.13 | Increase | 34 | effect | 0.373 |