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.