Table 5.
Prediction of epidermal keratin mutation’s pathogenicity in mild 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 | |||||||
| K14 | |||||||||||||||
| 1 | 372 | 1 | C > A | Missense | p.(Asp124Glu) | IF | Damaging | 0.017 | 0.5119 | DC | 0.4153 | 0.992 | Medium | 2.875 | 0.8364 |
| 2 | 414 | 1 | G > C | Missense | p.(Glu138Asp) | IF | Tolerated | 0.057 | 0.3792 | DC | 0.4441 | 0.998 | Medium | 2.0099 | 0.5492 |
| 3 | 467 | 1 | C > T | Missense | p.(Pro156Leu) | IF | Damaging | 0.006 | 0.6138 | DC | 0.8103 | 1 | Medium | 3.335 | 0.9109 |
| 4 | 479 | 1 | A > T | Missense | p.(Lys160Ile) | IF | Damaging | 0.019 | 0.5008 | Polymorphism | 0.08979 | 1 | Medium | 3.125 | 0.8823 |
| 5 | 659 | 2 | G > T | Missense | p.(Gly220Val) | IF protein, keratin type I | Damaging | 0 | 0.9122 | DC | 0.8103 | 1 | Medium | 2.565 | 0.7524 |
| 6 | 896 | 4 | G > C | Missense | p.(Arg299Pro) | IF protein, prefoldin | Damaging | 0.008 | 0.5857 | DC | 0.4637 | 0.999 | Medium | 3.1099 | 0.8799 |
| 7 | 944 | 4 | G > C | Missense | p.(Arg315Pro) | IF protein, prefoldin | Damaging | 0.006 | 0.6138 | DC | 0.3752 | 0.946 | Medium | 2.3399 | 0.6737 |
| 8 | 1237 | 6 | G > A | Missense | p.(Ala413Thr) | IF protein (conserved site), IF | Tolerated | 0.099 | 0.3061 | Polymorphism | 0.4614 | 0.001 | Medium | 2.2999 | 0.6591 |
| 9 | 1246 | 6 | C > T | Missense | p.(Arg416Cys) | IF protein (conserved site), IF | Tolerated | 0.132 | 0.2648 | DC | 0.8103 | 1 | Medium | 2.9349 | 0.8489 |
| K10 | |||||||||||||||
| 10 | 414 | 1 | T > A | Missense | p.(Asp138Glu) | Tolerated | 0.828 | 0.02894 | DC, polymorphism | 0.8103 | 0.992 | Medium | 2.1549 | 0.6042 | |
| 11 | 428 | 1 | C > T | Missense | p.(Ser143Phe) | Damaging | 0.016 | 0.518 | DC | 0.8103 | 0.55 | Medium | 2.14 | 0.6007 | |
| 12 | 502 | 1 | G > C | Missense | p.(Glu168Gln) | IF protein | Damaging | 0.005 | 0.6317 | DC | 0.8103 | 1 | Medium | 3.4849 | 0.9277 |
| 13 | 679 | 2 | G > T | Missense | p.(Ala227Ser) | IF protein, keratin type I | Damaging | 0.023 | 0.4813 | DC | 0.8103 | 1 | Medium | 2.6349 | 0.7736 |
| 14 | 715 | 2 | G > C | Missense | p.(Glu239Gln) | IF protein, keratin type I | Damaging | 0.001 | 0.7842 | DC | 0.8103 | 1 | Medium | 2.7799 | 0.8138 |
| 15 | 730 | 2 | C > G | Missense | p.(Leu244Val) | IF protein | Damaging | 0.005 | 0.6317 | DC | 0.8103 | 0.97 | Medium | 2.8199 | 0.8237 |
| 16 | 770 | 3 | G > T | Missense | p.(Arg257Met) | IF protein, keratin type I | Damaging | 0 | 0.9122 | DC | 0.8103 | 0.916 | Medium | 3.25 | 0.9002 |
DC disease causing, IF intermediate filament, MT mutation, AA amino acid