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

Elango, Tamilselvi; Sun, Jingying; Zhu, Caihong; Zhou, Fusheng; Zhang, Yaohua; Sun, Liangdan; Yang, Sen; Zhang, Xuejun

doi:10.1186/s40246-018-0158-2

Human Genomics

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
S. no.	MT position	Exon	seq.MT	Type of MT	AA change	Variant in protein domain	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

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