Table 5.
No | Mutant | PolyPhen-2 HumDiv | PolyPhen HumVar | Provean | SIFT | FATHMM | PANTHER | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Score | Prediction | Score | Prediction | Score | Prediction | Score | Prediction | Domain Involved | Cancer | Inherited disease | |||||||
Score | Prediction | Score | Prediction | Preservation time | Message | Pdel | |||||||||||
1 | A289D | 0.996 | PD | 0.993 | PD | −5.24 | Del | 0.001 | D | Growth factor receptor domain | −1.01 | Cancer | −0.01 | T | 797 | PD | 0.74 |
2 | A289T | 0.987 | PD | 0.974 | PD | −3.54 | Del | 0.001 | D | Growth factor receptor domain | −1.02 | Cancer | −0.02 | T | 797 | PD | 0.74 |
3 | A289V | 0.997 | PD | 0.989 | PD | −3.56 | Del | 0.001 | D | Growth factor receptor domain | −1.04 | Cancer | −0.04 | T | 797 | PD | 0.74 |
4 | C620W | 1 | PD | 0.998 | PD | −10.32 | Del | 0 | D | Growth factor receptor domain | −3.32 | Cancer | 0.00 | T | 911 | PD | 0.85 |
5 | C620Y | 1 | PD | 0.989 | PD | −10.32 | Del | 0 | D | Growth factor receptor domain | −3.3 | Cancer | 0.02 | T | 911 | PD | 0.85 |
6 | E709K | 0.974 | PD | 0.721 | Pos D | −3.38 | Del | 0.003 | D | Protein kinase−like (PK−like) | −1.93 | Cancer | 0.07 | T | 842 | PD | 0.78 |
7 | G598V | 0.997 | PD | 0.849 | Pos D | −8.43 | Del | 0.004 | D | Growth factor receptor domain | −2.26 | Cancer | 1.06 | T | 797 | PD | 0.74 |
8 | H304Y | 0 | benign | 0.005 | benign | −2.01 | Neut | 1 | T | Growth factor receptor domain | −1.02 | Cancer | −0.02 | T | 456 | PD | 0.57 |
9 | L62R | 0.795 | Pos D | 0.553 | Pos D | −2.02 | Neut | 0.006 | D | Receptor L domain | −0.6 | Passenger/Other | −1.27 | T | 455 | PD | 0.57 |
10 | P596R | 1 | PD | 0.999 | PD | −8.44 | Del | 0 | D | Growth factor receptor domain IV | −3.96 | Cancer | −0.38 | T | 911 | PD | 0.85 |
11 | P596S | 1 | PD | 0.968 | PD | −7.5 | Del | 0.005 | D | Growth factor receptor domain IV | −3.93 | Cancer | −0.35 | T | 911 | PD | 0.85 |
12 | R108G | 1 | PD | 1 | PD | −5.87 | Del | 0.01 | D | Receptor L domain | −0.81 | Cancer | −1.48 | T | 842 | PD | 0.78 |
13 | R108K | 1 | PD | 1 | PD | −2.59 | Del | 0.001 | D | Receptor L domain | −0.78 | Cancer | −1.44 | T | 842 | PD | 0.78 |
14 | R222C | 1 | PD | 1 | PD | −6.52 | Del | 0 | D | Growth factor receptor domain | −1.05 | Cancer | −0.05 | T | 797 | PD | 0.74 |
15 | R252C | 1 | PD | 0.993 | PD | −3.25 | Del | 0.025 | D | Furin−like cysteine rich region | −2.74 | Cancer | −2.08 | D | 456 | PD | 0.57 |
16 | R252P | 0.998 | PD | 0.991 | PD | −3.17 | Del | 0.058 | T | Furin−like cysteine rich region | −2.73 | Cancer | −2.06 | D | 456 | PD | 0.57 |
17 | S645C | 0.999 | PD | 0.982 | PD | −1.96 | Neut | 0.187 | T | − | −1.07 | Cancer | −0.94 | T | 361 | Pos D | 0.5 |
18 | T263P | 0.952 | Pos D | 0.913 | PD | −1.38 | Neut | 0.087 | T | Furin−like cysteine rich region | −2.51 | Cancer | −1.85 | D | 176 | Prob Benign | 0.27 |
19 | T363I | 1 | PD | 0.994 | PD | −5.07 | Del | 0.001 | D | Receptor L domain | −0.96 | Cancer | −1.62 | D | 842 | PD | 0.78 |
20 | V774M | 1 | PD | 0.994 | PD | −1.61 | Neutral | 0.001 | D | Protein kinase−like (PK−like) | −2.3 | Cancer | −0.3 | T | 456 | PD | 0.57 |
21 | L861Q | 1 | PD | 0.993 | PD | −5.29 | Del | 0.008 | D | Protein tyrosine kinase | −1.88 | Cancer | −1.59 | D | 797 | PD | 0.74 |
22 | H773_V774dup | NA | NA | NA | NA | −10.34 | Del | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
PD probably damaging, Pos D possibly damaging, Del Deleterious, Neut Neutral, D Damaging, T Tolerated.