Copyright
©The Author(s) 2020.
World J Gastroenterol. Apr 28, 2020; 26(16): 1926-1937
Published online Apr 28, 2020. doi: 10.3748/wjg.v26.i16.1926
Published online Apr 28, 2020. doi: 10.3748/wjg.v26.i16.1926
Table 3 Prediction of protein function and amino acid evolution conservation of LKB1/STK11
| Case No. | Polyphen-2 | Mutation taster | FATHMM | M-CAP | GERP++ | phyloP | ||||||
| Score | Prediction | Score | Prediction | Score | Prediction | Score | Prediction | Score | Prediction | Score | Prediction | |
| 1 | 1 | Probably damaging | 1 | Pathogenic | -2.5 | Damaging | 0.591 | Damaging | 5.6 | Conserved | 7.91 | Conserved |
| 2 | / | / | 1 | Pathogenic | / | / | / | / | 3.9 | Conserved | 8.998 | Conserved |
| 3 | / | / | 1 | Pathogenic | / | / | / | / | / | / | / | / |
| 4 | / | / | 1 | Pathogenic | / | / | / | / | / | / | / | / |
| 5 | / | / | 1 | Pathogenic | / | / | / | / | / | / | / | / |
| 6 | 0.993 | Probably damaging | 1 | Pathogenic | -2.79 | Damaging | 0.704 | Damaging | 5.6 | Conserved | 7.799 | Conserved |
| 7 | / | / | 1 | Pathogenic | / | / | / | / | / | / | / | / |
| 8 | / | / | / | / | / | / | / | / | / | / | / | / |
| 10 | / | / | / | / | / | / | / | / | / | / | / | / |
| 13 | / | / | 1 | Pathogenic | / | / | / | / | / | / | / | / |
| 14 | / | / | 1 | Pathogenic | / | / | / | / | 3.9 | Conserved | 8.998 | Conserved |
| 16 | / | / | 1 | Pathogenic | / | / | / | / | / | / | / | / |
| 17 | / | / | / | / | / | / | / | / | / | / | / | / |
| 18 | / | / | 1 | Pathogenic | / | / | / | / | 3.9 | Conserved | 3.875 | Conserved |
| 19 | / | / | 1 | Pathogenic | / | / | / | / | / | / | / | / |
| 20 | / | / | / | / | / | / | / | / | / | / | / | / |
- Citation: Zhang Z, Duan FX, Gu GL, Yu PF. Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome. World J Gastroenterol 2020; 26(16): 1926-1937
- URL: https://www.wjgnet.com/1007-9327/full/v26/i16/1926.htm
- DOI: https://dx.doi.org/10.3748/wjg.v26.i16.1926