Table 1 SNPs analyzed in isoform 1by SIFT, PROVEAN, Polyphen 2.0, I-mutant 3.0, SNPs&GO
Isoform 1 | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNP rsID | Codons | Substitution | SIFT prediction | PROVEAN prediction | PolyPhen-2 prediction | I-Mutant DDG | SNPs&GO prediction | |||||
Prediction | Score | Prediction | Score | Prediction | Score | SVM3 Prediction Effect | DDG Value | Prediction | Probability | |||
rs17851921 | CAC ⇒ CCC | H117P | DAMAGING | 0 | Deleterious | 9.043 | Probably damaging | 1.000 | Large Increase | 0.33 | Disease | 0.805 |
CAC ⇒ CTC | H117L | Deleterious | 9.930 | Probably damaging | 1.000 | Large Increase | 0.65 | Disease | 0.794 | |||
rs111233577 | CTG ⇒ CGG | L290R | DAMAGING | 0 | Deleterious | 3.802 | Probably damaging | 1.000 | Large Decrease | -1.44 | Disease | 0.786 |
rs142596947 | CCT ⇒ ACT | P234T | DAMAGING | 0 | Deleterious | 5.194 | Probably damaging | 0.991 | Large Decrease | -1.08 | Disease | 0.557 |
rs144577485 | CCC ⇒ GCC | P209A | DAMAGING | 0 | Deleterious | 5.495 | Possibly damaging | 0.774 | Large Decrease | -0.99 | Disease | 0.575 |
rs145097667 | CAT ⇒ TAT | H287Y | DAMAGING | 0 | Deleterious | 3.810 | Probably damaging | 0.999 | Large Increase | 0.54 | Disease | 0.743 |
rs572025435 | AGG ⇒ AGT | R30S | DAMAGING | 0 | Deleterious | 3.653 | Probably damaging | 0.991 | Large Decrease | -1.17 | Disease | 0.542 |
rs748013931 | ACC ⇒ CCC | T158P | DAMAGING | 0 | Deleterious | 5.173 | Probably damaging | 1.000 | Large Decrease | -0.52 | Disease | 0.696 |
rs749006959 | TAT ⇒ TGT | Y142C | DAMAGING | 0 | Deleterious | 8.189 | Probably damaging | 1.000 | Large Increase | -1.13 | Disease | 0.749 |
rs750238738 | ATC ⇒ TTC | I237F | DAMAGING | 0 | Deleterious | 2.554 | Probably damaging | 0.993 | Large Decrease | -1.46 | Disease | 0.777 |
rs756652306 | GTG ⇒ GCG | V285A | DAMAGING | 0 | Deleterious | 2.527 | Probably damaging | 0.998 | Large Decrease | -1.04 | Disease | 0.617 |
rs760500349 | CAG ⇒ CTG | Q266L | DAMAGING | 0.04 | Deleterious | 4.451 | Probably damaging | 1.000 | Large Increase | 0.19 | Disease | 0.706 |
rs763201540 | GAC ⇒ AAC | D53N | DAMAGING | 0 | Deleterious | 3.842 | Probably damaging | 1.000 | Large Decrease | -1.07 | Disease | 0.728 |
GAC ⇒ TAC | D53Y | Deleterious | 6.941 | Probably damaging | 1.000 | Large Decrease | -0.29 | Disease | 0.872 | |||
rs765275727 | TGG ⇒ CGG | W298R | DAMAGING | 0 | Deleterious | 8.828 | Probably damaging | 1.000 | Large Decrease | -0.8 | Disease | 0.713 |
rs770027530 | TGC ⇒ TAC | C227Y | DAMAGING | 0 | Deleterious | 7.461 | Probably damaging | 1.000 | Large Decrease | -0.12 | Disease | 0.854 |
TGC ⇒ TTC | C227F | Deleterious | 7.461 | Probably damaging | 1.000 | Large Decrease | 0.06 | Disease | 0.882 | |||
rs770412396 | CTG ⇒ CCG | L102P | DAMAGING | 0.01 | Deleterious | 6.187 | Probably damaging | 1.000 | Large Decrease | -1.63 | Disease | 0.786 |
rs772834879 | TAC ⇒ CAC | Y142H | DAMAGING | 0 | Deleterious | -4.54 | Probably damaging | 1.000 | Large Decrease | -1.31 | Disease | 0.635 |
rs780697086 | TGC ⇒ AGC | C188S | DAMAGING | 0 | Deleterious | -8.51 | Probably damaging | 0.975 | Large Decrease | -0.8 | Disease | 0.768 |
rs781774818 | CCT ⇒ CAT | P259H | DAMAGING | 0 | Deleterious | 5.764 | Probably damaging | 1.000 | Large Decrease | -1.22 | Disease | 0.581 |
rs867319917 | TGG ⇒ CGG | W157R | DAMAGING | 0 | Deleterious | 12.658 | Probably damaging | 1.000 | Large Decrease | -0.86 | Disease | 0.791 |
rs1200732770 | GCC ⇒ GAC | A229D | DAMAGING | 0 | Deleterious | 4.021 | Probably damaging | 1.000 | Large Decrease | -0.87 | Disease | 0.775 |
rs1260086927 | CAG ⇒ CCG | Q96P | DAMAGING | 0.01 | Deleterious | 4.891 | Probably damaging | 0.996 | Large Decrease | -0.4 | Disease | 0.524 |
rs1265409678 | CTC ⇒ CGC | L294R | DAMAGING | 0.01 | Deleterious | 3.443 | Probably damaging | 0.999 | Large Decrease | -1.31 | Disease | 0.664 |
rs1317292772 | GAT ⇒ AAT | D143N | DAMAGING | 0 | Deleterious | 4.485 | Probably damaging | 0.996 | Large Decrease | -0.55 | Disease | 0.662 |
GAT ⇒ CAT | D143H | Deleterious | 6.283 | Possibly damaging | 0.725 | Large Decrease | -0.24 | Disease | 0.643 | |||
rs1379742188 | CGC ⇒ AGC | R205S | DAMAGING | 0.02 | Deleterious | 4.275 | Possibly damaging | 0.939 | Large Decrease | -1.2 | Disease | 0.640 |
rs1390270595 | TAC ⇒ TGC | Y51C | DAMAGING | 0.03 | Deleterious | 6.756 | Probably damaging | 1.000 | Large Decrease | -1.29 | Disease | 0.724 |
rs1397132797 | CTG ⇒ CCG | L196P | DAMAGING | 0.01 | Deleterious | 5.562 | Probably damaging | 1.000 | Large Decrease | -1.66 | Disease | 0.760 |
rs1414848134 | GAC ⇒ GTC | D54V | DAMAGING | 0 | Deleterious | 6.752 | Possibly damaging | 0.893 | Large Decrease | -1.04 | Disease | 0.874 |
rs143056505 | CCT ⇒ CTT | P234L | DAMAGING | 0 | Deleterious | 6.497 | Possibly damaging | 0.454 | Large Decrease | -0.33 | Disease | 0.711 |
rs147253884 | CCC ⇒ CGC | P209R | DAMAGING | 0 | Deleterious | 6.191 | Probably damaging | 0.993 | Large Decrease | -0.61 | Disease | 0.763 |
rs1475659109 | CCC ⇒ CTC | P39L | DAMAGING | 0 | Deleterious | 7.485 | Probably damaging | 1.000 | Large Increase | -0.48 | Disease | 0.582 |
rs555347515 | ATG ⇒ AAG | M29K | DAMAGING | 0 | Deleterious | 3.427 | Probably damaging | 0.996 | Large Decrease | -1.48 | Disease | 0.774 |
rs556645753 | GAC ⇒ GGC | D153G | DAMAGING | 0 | Deleterious | 6.309 | Probably damaging | 0.999 | Large Decrease | -0.73 | Disease | 0.511 |
rs565858069 | GAC ⇒ CAC | D130H | DAMAGING | 0.03 | Deleterious | 5.927 | Probably damaging | 1.000 | Large Decrease | -0.49 | Disease | 0.648 |
rs754527717 | GAT ⇒ GGT | D244G | DAMAGING | 0.01 | Deleterious | 3.915 | Probably damaging | 0.995 | Large Decrease | -0.09 | Disease | 0.561 |
rs1161818149 | CTG ⇒ CAG | L105Q | DAMAGING | 0 | Deleterious | 4.572 | Probably damaging | 1.000 | Large Decrease | -2.04 | Disease | 0.764 |
CTG ⇒ CCG | L105P | Deleterious | 5.349 | Probably damaging | 1.000 | Large Decrease | -1.69 | Disease | 0.799 | |||