Table 6 Prediction of epidermal and hyperproliferative keratin mutation’s pathogenicity in moderate psoriasis using Alamut Visual software
S. no. | MT position | Exon | seq.MT | Type of MT | AA change | Variant in protein domain | SIFT | Mutation taster | Mutation assessor | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Prediction | Score | Range score | Prediction | Range score | P value | Prediction | Score | Range score | |||||||
| Â | K14 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
1 | 388 | 1 | C > G | Missense | p.(Leu130Val) | IF protein | Damaging | 0.001 | 0.7842 | DC | 0.537 | 1 | High | 3.8199 | 0.9566 |
2 | 415 | 1 | G > C | Missense | p.(Ala139Pro) | IF protein | Damaging | 0.006 | 0.6138 | DC | 0.8103 | 1 | High | 4.3049 | 0.9832 |
3 | 419 | 1 | A > T | Missense | p.(Asn140Ile) | IF protein | Damaging | 0 | 0.9122 | DC | 0.5881 | 1 | High | 4.425 | 0.9876 |
4 | 442 | 1 | C > T | Missense | p.(Arg148Cys) | IF protein | Damaging | 0 | 0.9122 | DC | 0.5881 | 1 | High | 3.75 | 0.9513 |
5 | 512 | 1 | A > T | Missense | p.(Asp171Val) | IF protein | Damaging | 0 | 0.9122 | DC | 0.8103 | 1 | High | 3.835 | 0.9576 |
6 | 519 | 1 | G > T | Missense | p.(Arg173Ser) | IF protein | Damaging | 0.001 | 0.7842 | DC | 0.4122 | 0.991 | High | 4.025 | 0.9697 |
7 | 904 | 4 | G > C | Missense | p.(Ala302Pro) | IF protein, prefoldin | Damaging | 0.001 | 0.7842 | Polymorphism | 0.2979 | 0.735 | High | 4.085 | 0.9729 |
8 | 1057 | 6 | G > C | Missense | p.(Ala353Pro) | IF protein, keratin type I | Tolerated | 0.189 | 0.2119 | DC | 0.4816 | 0.999 | High | 3.875 | 0.9604 |
9 | 1234 | 6 | A > T | Missense | p.(Ile412Phe) | IF protein (conserved site), IF | Damaging | 0 | 0.9122 | DC | 0.8103 | 1 | High | 4.65 | 0.9939 |
| Â | K10 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
10 | 479 | 1 | A > C | Missense | p.(Tyr160Ser) | IF protein | Damaging | 0 | 0.9122 | DC | 0.8103 | 1 | High | 4.5549 | 0.9916 |
11 | 520 | 1 | C > A | Missense | p.(Leu174Met) | IF protein | Damaging | 0.001 | 0.7842 | DC | 0.8103 | 0.991 | High | 3.5099 | 0.9302 |
12 | 674 | 2 | A > C | Missense | p.(Asp225Ala) | IF protein | Damaging | 0 | 0.9122 | DC | 0.8103 | 1 | High | 3.9549 | 0.9656 |
13 | 704 | 2 | G > T | Missense | p.(Arg235Met) | IF protein, keratin type I | Damaging | 0 | 0.9122 | DC | 0.8103 | 0.84 | High | 4.2849 | 0.9824 |
14 | 711 | 2 | G > T | Missense | p.(Lys237Asn) | IF protein, keratin type I | Damaging | 0 | 0.9122 | DC | 0.8103 | 0.983 | High | 3.66 | 0.944 |
15 | 785 | 3 | T > A | Missense | p.(Leu262Gln) | IF protein, prefoldin, keratin I | Damaging | 0 | 0.9122 | DC | 0.8103 | 0.834 | High | 4.2399 | 0.9805 |
| Â | K16 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
16 | 410 | 1 | C > T | Missense | p.(Ala137Val) | IF | Damaging | 0.002 | 0.7209 | Polymorphism | 0.3052 | 0.65 | Medium | 3.39 | 0.9174 |
17 | 583 | 1 | G > T | Missense | p.(Ala195Ser) | IF protein, keratin type I | Damaging | 0.029 | 0.457 | DC | 0.4734 | 1 | Medium | 2.805 | 0.8202 |
18 | 589 | 1 | C > A | Missense | p.(Leu197Met) | IF protein, keratin type I | Damaging | 0.028 | 0.4608 | DC | 0.4467 | 0.998 | Medium | 2.88 | 0.8371 |
19 | 634 | 1 | C > G | Missense | p.(Leu212Val) | IF | Damaging | 0.009 | 0.5743 | DC | 0.4067 | 0.988 | Medium | 2.9849 | 0.8585 |
20 | 667 | 1 | C > G | Missense | p.(Leu223Val) | IF protein, keratin type I | Damaging | 0.001 | 0.7842 | DC | 0.4434 | 1 | Medium | 3.3 | 0.9406 |
| Â | K17 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
21 | 503 | 1 | A > T | Missense | p.(Asp168Val) | IF protein, keratin type I | Damaging | 0 | 0.9122 | DC | 0.8103 | 1 | Medium | 3.3 | 0.9473 |
22 | 662 | 2 | A > T | Missense | p.(Asn221Ile) | IF protein, prefoldin | Damaging | 0.01 | 0 | Polymorphism | 0.4721 | 0.999 | Medium | 2.605 | 0.7645 |
23 | 682 | 3 | G > C | Missense | p.(Ala228Pro) | IF protein, prefoldin | Damaging | 0.016 | 0.518 | Polymorphism | 0.1948 | 1 | Medium | 3.25 | 0.9409 |
24 | 907 | 4 | C > T | Missense | p.(Leu303Phe) | IF protein, prefoldin | Damaging | 0.03 | 0, 0.001 | Polymorphism | 0.5164 | 1 | Medium | 3.4749 | 0.9267 |
26 | 986 | 5 | C > T | Missense | p.(Ala329Val) | IF protein | Damaging | 0.51 | 0.017 | Polymorphism | 0.4593 | 0.999 | Medium | 3.17 | 0.8891 |
26 | 1070 | 5 | G > T | Missense | p.(Arg357Leu) | IF protein, keratin type I | Damaging | 0 | 0.9122 | DC | 0.8103 | 1 | Medium | 3.17 | 0.9796 |
27 | 1144 | 6 | G > T | Missense | p.(Ala382Ser) | IF protein (conserved site), IF | Tolerated | 0 | 0.122 | Polymorphism | 0.4437 | 0.998 | Medium | 2.265 | 0.6465 |
28 | 1210 | 6 | A > C | Missense | p.(Thr404Pro) | IF protein (conserved site), IF | Tolerated | 0 | 0.075 | Polymorphism | 0.5199 | 1 | Medium | 2.6099 | 0.7658 |