Table 1.
Summary of nsSNPs (tolerated/deleterious) that were analyzed by computational methods SIFT, PolyPhen 2.0, I-Mutant 3.0 and SNAP.
| SNP ID | Allele | Variant | SIFT | PolyPhen 2.0 | I-Mutant 3.0 | SNAP | References |
|---|---|---|---|---|---|---|---|
| rs143341876 | C/T | P23L | 0.2 | 0.994 | − 0.12 | N | |
| rs149206728 | C/T | P25L | 0.39 | 0.00 | − 0.02 | N | |
| rs145434725 | C/T | P28L | 0.42 | 0.111 | 0.06 | N | |
| rs121909640 | C/T | G48S | 0.01 | 0.999 | − 0.96 | N | (Trarbach et al., 2006) |
| rs145315779 | C/A | R54H | 0.13 | 0.962 | − 1.26 | N | |
| rs150042321 | A/T | D59V | 0.16 | 0.383 | − 0.18 | N | |
| rs140254426 | G/A | G70R | 0.13 | 0.871 | − 0.63 | N.N | |
| rs143241978 | C/T | A74V | 0.29 | 0.00 | − 0.15 | N | |
| rs139867599 | G/T | V88L | 0.37 | 0.074 | − 0.62 | N | |
| rs150973404 | C/A | A94E | 1.00 | 0.00 | − 0.23 | N | |
| rs55642501 | G/A | V102I | 0.47 | 0.016 | − 0.55 | N | (Albuisson et al., 2005) |
| rs140382957 | C/T | S107L | 0.68 | 0.001 | − 0.19 | N | |
| rs121913473 | C/T | S125L | 0.37 | 0.018 | − 0.49 | N | (Greenman et al., 2007) |
| rs77734798 | A/C | D128A | 0.63 | 0.998 | − 0.68 | N | |
| rs121909630 | G/T | A167S | 0.19 | 1.00 | − 0.77 | N.N | (Dode et al., 2003) |
| rs17851623 | T/G | W213G | 0.03 | 1.00 | − 2.29 | N.N | (Gerhard et al., 2004) |
| rs121909635 | G/A | G237S | 0.01 | 1.00 | − 1.26 | N.N | (Pitteloud et al., 2006) |
| rs186746130 | G/A | V248M | 0.12 | 0.95 | − 1.11 | N.N | |
| rs121909645 | G/A | R250Q | 0.03 | 0.967 | − 0.95 | N.N | (Trarbach et al., 2006) |
| rs121913472 | C/A | P252T | 0.52 | 0.575 | − 1.3 | N | (Muenke et al., 1994) |
| rs121909627 | C/G | P252R | 0.00 | 0.999 | − 0.96 | N.N | (Greenman et al., 2007) |
| rs4647901 | G/C | L261F | 0.02 | 1.00 | − 1.1 | N | |
| rs121909633 | T/C | I300T | 0.39 | 0.01 | − 2.33 | N.N | (Pitteloud et al., 2006) |
| rs121909632 | A/T | N330I | 0.00 | 1.00 | − 0.97 | N.N | (Muenke et al., 1994) |
| rs121909638 | T/C | L342S | 0.13 | 0.976 | − 1.02 | N.N | |
| rs121909641 | C/T | P366L | 0.34 | 0.002 | − 0.38 | N.N | (Trarbach et al., 2006) |
| rs121909631 | A/G | Y374C | 0.23 | 0.997 | − 1.11 | N.N | (Muenke et al., 1994) |
| rs121909634 | T/C | C381R | 0.29 | 0.99 | − 0.16 | N.N | (Muenke et al., 1994) |
| rs183376882 | G/A | R424H | 0.55 | 0.032 | − 1.45 | N.N | |
| rs121909637 | G/T | R470L | 0.00 | 0.002 | − 0.45 | N.N | |
| rs77988343 | T/G | V513G | 0.00 | 0.999 | − 2.28 | N.N | |
| rs121909629 | G/A | V607M | 0.00 | 0.998 | − 1.81 | N.N | (Albuisson et al., 2005) |
| rs121909642 | C/T | P722S | 0.00 | 1.00 | − 2.69 | N.N | (Trarbach et al., 2006) |
| rs121909643 | G/T | Q764H | 0.01 | 0.841 | − 0.93 | N.N | |
| rs149979921 | T/G | L767R | 0.00 | 0.987 | − 1.71 | N.N | |
| rs2956723 | C/G | L769V | 0.32 | 0.046 | − 1.39 | N.N | |
| rs56234888 | C/T | P772S | 0.15 | 0.017 | − 1.68 | N.N | (Kress et al., 2009) |
| rs17182463 | C/T | R822C | 0.00 | 0.999 | − 0.84 | N | (Kress et al., 2009) |
AA — Amino Acid; NA — Not Available, N.N — Non neutral, and N — Neutral. SNP ID highlighted in bold is predicted to be deleterious by all 5 tools.