Table 2 SNPs analyzed in isoform 1by PhD-SNP, SNAP2, Mupro
Isoform 1 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
SNP rsID | Codons | Substitution | PhD-SNP | SNAP2 | MUpro | ||||
Prediction | Score | Prediction | Score | Expected Accuracy | Prediction | DDG Value | |||
rs17851921 | CAC ⇒ CCC | H117P | Disease | 5 | effect | 94 | 95% | DECREASE | -0.94483558 |
CAC ⇒ CTC | H117L | Disease | 5 | effect | 82 | 91% | INCREASE | 0.17248775 | |
rs111233577 | CTG ⇒ CGG | L290R | Disease | 6 | effect | 52 | 75% | DECREASE | -1.4553025 |
rs142596947 | CCT ⇒ ACT | P234T | Disease | 8 | effect | 58 | 75% | DECREASE | -0.8378542 |
rs144577485 | CCC ⇒ GCC | P209A | Disease | 4 | effect | 30 | 66% | DECREASE | -1.3457662 |
rs145097667 | CAT ⇒ TAT | H287Y | Disease | 6 | effect | 79 | 85% | INCREASE | 0.00175126 |
rs572025435 | AGG ⇒ AGT | R30S | Disease | 4 | effect | 2 | 53% | DECREASE | -1.582361 |
rs748013931 | ACC ⇒ CCC | T158P | Disease | 3 | effect | 56 | 75% | DECREASE | -1.0769639 |
rs749006959 | TAT ⇒ TGT | Y142C | Disease | 7 | effect | 69 | 80% | DECREASE | -1.7925753 |
rs750238738 | ATC ⇒ TTC | I237F | Disease | 5 | effect | 45 | 71% | DECREASE | -0.97093071 |
rs756652306 | GTG ⇒ GCG | V285A | Disease | 1 | effect | 36 | 66% | DECREASE | -0.89978472 |
rs760500349 | CAG ⇒ CTG | Q266L | Disease | 6 | effect | 78 | 85% | DECREASE | -0.05227910 |
rs763201540 | GAC ⇒ AAC | D53N | Disease | 5 | effect | 52 | 75% | DECREASE | -0.79149414 |
GAC ⇒ TAC | D53Y | Disease | 9 | effect | 84 | 91% | DECREASE | -0.45294328 | |
rs765275727 | TGG ⇒ CGG | W298R | Disease | 5 | effect | 87 | 91% | DECREASE | -1.1870648 |
rs770027530 | TGC ⇒ TAC | C227Y | Disease | 8 | effect | 68 | 80% | DECREASE | -0.88892871 |
TGC ⇒ TTC | C227F | Disease | 9 | effect | 75 | 85% | DECREASE | -0.71910267 | |
rs770412396 | CTG ⇒ CCG | L102P | Disease | 7 | effect | 79 | 85% | DECREASE | -2.238046 |
rs772834879 | TAC ⇒ CAC | Y142H | Disease | 5 | effect | 72 | 85% | DECREASE | -2.1531554 |
rs780697086 | TGC ⇒ AGC | C188S | Disease | 4 | effect | 75 | 85% | DECREASE | -1.0332928 |
rs781774818 | CCT ⇒ CAT | P259H | Disease | 5 | effect | 4 | 53% | DECREASE | -1.1893017 |
rs867319917 | TGG ⇒ CGG | W157R | Disease | 3 | effect | 93 | 95% | DECREASE | -0.91293557 |
rs1200732770 | GCC ⇒ GAC | A229D | Disease | 8 | effect | 75 | 85% | DECREASE | -0.6414612 |
rs1260086927 | CAG ⇒ CCG | Q96P | Disease | 6 | effect | 43 | 71% | DECREASE | -0.97929591 |
rs1265409678 | CTC ⇒ CGC | L294R | Disease | 6 | effect | 57 | 75% | DECREASE | -1.0427076 |
rs1317292772 | GAT ⇒ AAT | D143N | Disease | 4 | effect | 22 | 63% | DECREASE | -1.2006322 |
GAT ⇒ CAT | D143H | Disease | 9 | effect | 25 | 63% | DECREASE | -1.2840175 | |
rs1379742188 | CGC ⇒ AGC | R205S | Disease | 5 | effect | 34 | 66% | DECREASE | -0.52183883 |
rs1390270595 | TAC ⇒ TGC | Y51C | Disease | 2 | effect | 39 | 66% | DECREASE | -0.83530596 |
rs1397132797 | CTG ⇒ CCG | L196P | Disease | 8 | effect | 58 | 75% | DECREASE | -2.0384073 |
rs1414848134 | GAC ⇒ GTC | D54V | Disease | 5 | effect | 75 | 85% | DECREASE | -0.37383825 |
rs1430565057 | CCT ⇒ CTT | P234L | Disease | 7 | effect | 81 | 91% | INCREASE | 0.3342289 |
rs1472538844 | CCC ⇒ CGC | P209R | Disease | 3 | effect | 46 | 71% | DECREASE | -1.0509858 |
rs1475659109 | CCC ⇒ CTC | P39L | Disease | 5 | effect | 29 | 63% | DECREASE | -0.20370663 |
rs555347515 | ATG ⇒ AAG | M29K | Disease | 6 | effect | 25 | 63% | DECREASE | -1.7776487 |
rs556645753 | GAC ⇒ GGC | D153G | Disease | 2 | effect | 17 | 59% | DECREASE | -2.384922 |
rs565858069 | GAC ⇒ CAC | D130H | Disease | 5 | effect | 2 | 53% | DECREASE | -1.0708696 |
rs754527717 | GAT ⇒ GGT | D244G | Disease | 2 | effect | 7 | 53% | DECREASE | -1.7605711 |
rs1161818149 | CTG ⇒ CAG | L105Q | Disease | 3 | effect | 70 | 85% | DECREASE | -1.8766335 |
CTG ⇒ CCG | L105P | Disease | 6 | effect | 76 | 85% | DECREASE | -2.1510154 | |