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 9 Protein stability change prediction results of MUpro and I-Mutant2.0 for the 33 deleterious missense mutations of epidermal and hyperproliferative keratins in mild and moderate psoriasis patients

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

Stages of psoriasis	Gene	CDS mutation	AA mutation	MUpro				I-Mutant 2.0
Stages of psoriasis	Gene	CDS mutation	AA mutation	SVM	SVMCS	NN	NNCS	Stability	DDG
Mild	K14	c.372C > A	p.D124E	Increase	0.05	Increase	0.71	Decrease	− 0.52
		c.479A > T	p.K160I	Decrease	− 0.54	Decrease	− 0.89	Decrease	0.61
		c.659G > T	p.G220V	Increase	0.41	Increase	0.65	Decrease	− 0.46
		c.896G > C	p.R299P	Decrease	− 0.57	Decrease	− 0.75	Decrease	− 2.22
		c.944G > C	p.R315P	Decrease	− 0.53	Decrease	− 0.86	Decrease	− 1.26
		c.1246C > T	p.R416C	Decrease	− 0.16	Decrease	− 0.58	Decrease	− 0.3
	K10	c.502G > C	p.E168Q	Increase	0.39	Increase	0.70	Decrease	− 0.01
		c.679G > T	p.A227S	Decrease	− 1	Decrease	− 0.71	Decrease	− 0.19
		c.715G > C	p.E239Q	Decrease	− 0.12	Decrease	− 0.64	Decrease	− 0.28
		c.730C > G	p.L244V	Decrease	− 1	Decrease	− 0.94	Decrease	− 2.03
		c.770G > T	p.R257M	Increase	0.53	Increase	0.81	Decrease	− 0.47
Moderate	K14	c.388C > G	p.L130V	Decrease	− 1	Decrease	− 1	Decrease	− 1.67
		c.415G > C	p.A139P	Decrease	− 0.63	Decrease	− 0.88	Decrease	− 1.89
		c.419A > T	p.N140I	Decrease	− 0.23	Decrease	− 0.67	Increase	1.57
		c.442C > T	p.R148C	Decrease	− 1	Decrease	− 1	Decrease	− 0.28
		c.512A > T	p.D171V	Decrease	− 0.37	Decrease	− 1	Decrease	− 0.36
		c.519G > T	p.R173S	Decrease	− 1	Decrease	− 1	Decrease	− 2.37
		c.904G > C	p.A302P	Increase	0.63	Increase	0.73	Decrease	− 3.34
		c.1057G > C	p.A353P	Decrease	− 0.58	Decrease	− 0.65	Increase	− 0.65
		c.1234A > T	P.I412F	Decrease	− 1	Decrease	− 0.69	Decrease	− 0.95
	K10	c.479A > C	p.Y160S	Decrease	− 0.47	Decrease	− 0.64	Decrease	− 1.16
		c.520C > A	p.L174M	Decrease	− 1	Decrease	− 1	Decrease	0.12
		c.674A > C	p.D225A	Decrease	− 0.39	Decrease	− 0.78	Decrease	− 0.76
		c.704G > T	p.R235M	Decrease	− 0.45	Decrease	− 0.89	Decrease	− 0.59
		c.711G > T	p.K237N	Decrease	− 0.60	Decrease	− 1	Increase	0.26
		c.785T > A	p.L262Q	Decrease	− 1	Decrease	− 1	Decrease	− 1.82
	K16	c.667C > G	p.L223V	Decrease	− 1	Decrease	− 1	Decrease	− 1.39
	K17	c.503A > T	p.D168V	Decrease	− 0.30	Decrease	− 0.60	Decrease	− 0.73
		c.662A > T	p.N221I	Decrease	− 0.70	Increase	0.62	Increase	1.64
		c.682G > C	p.A228P	Decrease	− 0.04	Increase	0.61	Decrease	− 2.48
		c.907C > T	p.L303F	Decrease	− 1	Decrease	− 1	Decrease	0.95
		c.986C > T	p.A329V	Decrease	− 0.34	Decrease	− 0.88	Decrease	0.12
		c.1070G > T	p.R357L	Increase	0.15	Increase	0.68	Increase	0.66

CDS coding sequences, AA amino acid, SVM support vector machine, SVMCS SVM confidence score, NN neural network, NNCS neural network confidence score, DDG free energy change value

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ISSN: 1479-7364

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