Table 1 of
Wang, Mol Vis 2022; 28:352-358. Table 1 of
Wang, Mol Vis 2022; 28:352-358.
Table 1. Description of SIFT, Polyphen2, CADD scores and PyMol structure prediction for 2 novel missense variations.
| Mutation | Protein | SIFT | Polyphen2 | CADD | PyMol |
|---|---|---|---|---|---|
| 150C>G | Asp50Glu | 0.056 | 0.994 | 24 | Unstable structure due to a wild-type Asp replaced by a mutant type Glu with a larger molecular weight than Asp; and caused by loss of interaction between Asp and Lys at codon 48 due to amino acid replacement. |
| 326A>T | Asn109Ile | 0 | 1.000 | 28 | Unstable structure caused by a hydrophilic polar amino acid of Asn replaced by a hydrophobic nonpolar amino acid of Ile. |