Table 1 SLURP1 exome mutations: review and in silico predictions for functions
Nucleotide change | Protein change | Mutation taster | PROVEAN | SIFT | PolyPhen-2 | PANTHER | FATHMM | mCSM | Site Directed Mutator | DUET | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c.1A> C | M1L | 0.0001 | disease causing | -0.76 | 0.000 | damaging | 0.267 | benign | 97 | probably benign | -1.52 | damaging | 0.038 kcal/mol (Stabilizing) | 0.0 (Reduced stability) | 0.497 kcal/mol (Stabilizing) |
c.43 T > C | W15R | 0.0000 | disease causing | -1.79 | 0.139 | tolerated | 0.995 | probably damaging | 97 | probably benign | -1.59 | damaging | 0.057 kcal/mol (Stabilizing) | -0.14 (Reduced stability) | 0.04 kcal/mol (Stabilizing) |
c.129C > A | C43X | 1.0000 | disease causing | ||||||||||||
c.211C > T* | R71C | 0.9446 | Deleterious | -5.4 | 0.001 | damaging | 0.895 | possibly damaging | 98 | probably benign | -0.85 | tolerated | -1.722 kcal/mol (Destabilizing) | -1.45 (Reduced stability) | -1.995 kcal/mol (Destabilizing) |
c.212G > A | R71H | 0.9565 | polymorphism | -3.32 | 0.007 | damaging | 0.998 | probably damaging | 98 | probably benign | -0.83 | tolerated | -0.647 kcal/mol(Destabilizing) | -0.75 (Reduced stability) | -0.722 kcal/mol (Destabilizing) |
c.212G > C | R71P | 0.8811 | polymorphism | -3.98 | 0.006 | damaging | 0.988 | probably damaging | 98 | probably benign | -0.83 | tolerated | -0.628 kcal/mol (Destabilizing) | -2.69 (Reduced stability) | -1.321 kcal/mol (Destabilizing) |
c.229 T > C | C77R | 0.9009 | disease causing | -11.01 | 0.000 | damaging | 1 | probably damaging | 98 | probably benign | -1.12 | tolerated | -0.05 kcal/mol (Destabilizing) | -0.72 (Reduced stability) | 0.151 kcal/mol (Stabilizing) |
c.243C > A* | D81E | 0.7546 | polymorphism | -2.52 | 0.013 | damaging | 0.925 | probably damaging | 98 | probably benign | -0.49 | tolerated | -0.212 kcal/mol (Destabilizing) | -0.49 (Reduced stability) | -0.075 kcal/mol (Destabilizing) |
c.244C > T | P82S | 0.6831 | polymorphism | -1.61 | 0.053 | tolerated | 1 | probably damaging | 98 | probably benign | -0.26 | tolerated | -0.343 kcal/mol (Destabilizing) | 0.1 (Increased stability) | -0.164 kcal/mol (Destabilizing) |
c.256G > C | G86R | 0.0035 | disease causing | -5.48 | 0.095 | tolerated | 1 | probably damaging | 98 | probably benign | -0.56 | tolerated | -0.449 kcal/mol (Destabilizing) | -3.82 (Reduced stability) | -0.842 kcal/mol (Destabilizing) |
c.256G > A* | G86R | 0.0035 | disease causing | -5.48 | 0.095 | tolerated | 1 | probably damaging | 98 | probably benign | -0.56 | tolerated | -0.449 kcal/mol (Destabilizing) | -3.82 (Reduced stability) | -0.842 kcal/mol (Destabilizing) |
c.280 T > A | C94S | 0.9847 | disease causing | -9.300 | 0.000 | damaging | 0.999 | probably damaging | 1036 | probably damaging | -5.5 | damaging | -1.535 kcal/mol (Destabilizing) | -0.63 (Reduced stability) | -1.306 kcal/mol (Destabilizing) |
c.286C > T | R96X | 0.9641 | disease causing | ||||||||||||
c.293 T > C | L98P | 1.0000 | disease causing | -6.7 | 0.000 | damaging | 1 | probably damaging | 324 | possibly damaging | -0.87 | tolerated | -1.422 kcal/mol (Destabilizing) | -1.87 (Reduced stability) | -1.831 kcal/mol (Destabilizing) |
c.296G > A | C99Y | 0.9935 | disease causing | -10.3 | 0.001 | damaging | 1 | probably damaging | 1036 | probably damaging | -6.25 | damaging | -0.898 kcal/mol (Destabilizing) | 0.93 (Increased stability) | -0.54 kcal/mol (Destabilizing) |