Table 2 In silico analysis of the identified USH2A variants
From: USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families
Nucleotide change | Amino acid change | Exon | PolyPhen-2 | PROVEAN | SIFT | |||
|---|---|---|---|---|---|---|---|---|
Prediction | Score | Prediction | Score | Prediction | Score | |||
c.4029G > C | p.Asn1343Lys | 17 | Probably damaging | 1.000 | Deleterious | -3.428 | Damaging | 0.01 |
c.7334 C > T | p. Ser2445Phe | 19 | Probably damaging | 1.000 | Deleterious | -3.008 | Damaging | 0.01 |