Table 2 PALB2 missense variants and prediction of pathogenicity
From: PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China
Exon | Nucleotide change | Protein change | Mutation cases | SIFT score | Polyphen score |
|---|---|---|---|---|---|
10 | c.3035C>T | p.T1012I | 1 | 0 | 0.997 |
7 | c.2720A>G | p.E907G | 1 | 0.02 | 0.983 |
4 | c.1273G>A | p.V425M | 1 | 0.01 | 0.002 |
4 | c.925A>G | p.I309V | 3 | 1 | 0 |
4 | c.691A>G | p.K231E | 1 | 0.04 | 0.023 |
10 | c.3054G>C | p.E1018D | 2 | 0.03 | 0.95 |
12 | c.3306C>G | p.S1102R | 1 | 0.01 | 0.119 |
7 | c.2699C>T | p.A900V | 1 | 0.02 | 0.024 |
2 | c.64G>A | p.A22T | 1 | 0 | 0.98 |