Table 3.
Missense changes found in the coding region of the ENG gene and their classification according to computer algorithms (PolyPhen-2, Pmut, SIFT and MutationTaster2)
| Classification of missense variations found in the coding region | ||||||||
|---|---|---|---|---|---|---|---|---|
| Exon | Nucleotide change | Amino acid change | Times detected | PolyPhen-2 | Pmut | Sift | Mutation Taster | Score |
| Exon 5 | c.572G>A | p.(G191D) | 10 | Probably Damaging | Pathological | Damaging | Disease causing | 4 |
| Exon 6 | c.775G>A | p.(V259M) | 3 | Probably Damaging | Neutral | Damaging | Polymorphism | 2 |
| Exon 10 | c.1295A>T | p.(S432C) | 2 | Probably Damaging | Pathological | Tolerated | Polymorphism | 2 |
| Exon 11 | c.1402G>C | p.(E468Q) | 12 | Probably Damaging | Neutral | Tolerated | Polymorphism | 1 |
| Exon 11 | c.1421T>A | p.(F474Y) | 6 | Probably Damaging | Neutral | Tolerated | Polymorphism | 1 |
| Exon 12 | c.1633G>A | p.(G545S) | 1 | Probably Damaging | Pathological | Tolerated | Disease causing | 3 |
| Exon 12 | c.1660C>A | p.(R554C) | 1 | Probably Damaging | Pathological | Tolerated | Polymorphism | 2 |
These results are considered damaging if the score is equal or greater than two