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Table 5 Prediction of epidermal keratin mutation’s pathogenicity in mild psoriasis using Alamut Visual software

From: Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity

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
  1. DC disease causing, IF intermediate filament, MT mutation, AA amino acid