Table 3 Genetics characteristics of two missense mutations identified in this study
Nucleotide alteration | Amino acid changes | gnomAD | GERP++ | SIFT | Mutation Taster | Polyphen2 | Condel |
|---|---|---|---|---|---|---|---|
c.796 C > T | p.Arg266Trp | - | 2.83 | deleterious | disease causing (0.208) | probably_damaging (0.997) | Deleterious (0.911) |
c.707 C > A | p.Pro236Gln | 3.98E-06 | 2.95 | deleterious | polymorphism (0.757) | Benign (0.103) | Neutral (0.453) |