Table 2.
List of SNPs that were predicted by PolyPhen-2 server as significantly damaging.
| rsIDs | Amino acid position | Mutation | PSIC score | Effect |
|---|---|---|---|---|
| rs192719507 | 44 | L44F | 1 | Probably damaging |
| rs151296858 | 59 | G59S | 1 | Probably damaging |
| rs114166108 | 62 | P62S | 0.997 | Probably damaging |
| rs113469614 | 65 | N65K | 0.989 | Probably damaging |
| rs141809307 | 94 | T94T | 1 | Probably damaging |
| rs56250729 | 97 | I97L | 0.997 | Probably damaging |
| rs138740835 | 98 | L98F | 0.539 | Possibly damaging |
| rs115634589 | 101 | I101T | 0.999 | Probably damaging |
| rs182539049 | 184 | L184S | 0.992 | Probably damaging |
| rs146781980 | 195 | V195I | 0.98 | Probably damaging |
| rs138685180 | 224 | L224P | 0.999 | Probably damaging |
| rs143565946 | 258 | L258H | 0.999 | Probably damaging |
| rs145415894 | 276 | A276V | 1 | Probably damaging |
| rs140715742 | 285 | L285M | 0.995 | Probably damaging |
| rs35553278 | 289 | A289T | 0.591 | Possibly damaging |
| rs151056294 | 318 | K318T | 0.651 | Probably damaging |
| rs148464936 | 355 | R355C | 1 | Probably damaging |
| rs142939718 | 361 | L361P | 1 | Probably damaging |
| rs145787003 | 406 | S406F | 0.976 | Probably damaging |
| rs486907 | 462 | R462Q | 0.998 | Probably damaging |
| rs190359946 | 483 | H483Q | 1 | Probably damaging |
| rs148411578 | 528 | V528I | 0.982 | Probably damaging |
| rs193195484 | 532 | V532I | 0.999 | Probably damaging |
| rs35896902 | 592 | R592H | 1 | Probably damaging |
| rs147890567 | 595 | T595M | 1 | Probably damaging |
| rs142133260 | 601 | N601S | 1 | Probably damaging |
| rs150721457 | 673 | I673T | 1 | Probably damaging |
PSIC = position-specific independent count score.
[Damaging rsID predicted by both SIFT and PolyPhen-2 server are shown in bold letters].