Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

Table 2 In silico predictions of functional effects for the three mutations identified in this study

Prediction program		*CRYGD*	*GJA8*	*GJA8*
		c.70C > A	c.20T > C	c.293A > C
		p.Pro24Thr	p.Leu7Pro	p.His98Pro
SIFT	Value (<0.05)	0.10	0.00	0.00
SIFT	Prediction	Tolerated	Not tolerated	Not tolerated
Polyphen-2	Score	0.084	0.991	1.000
Polyphen-2	Prediction	Benign	Probably damaging	Probably damaging
PMUT	NN output	0.0936	0.8749	0.7822
	Reliability	8	7	5
	Prediction	Neutral	Pathological	Pathological
PANTHER	subPSEC (<-3)	-2.35974	-4.3388	-3.98807
PANTHER	P_deleterious (>0.5)	0.34519	0.79148	0.72871
PON-P2	Probability for pathogenicity	0.479	0.947	0.444
	Standard error	0.332	0.050	0.090
	Prediction	Unknown	Pathogenic	Unknown
MutPred	Probability of deleterious mutation	0.840	0.918	0.889
	Molecular mechanisms disrupted		Loss of stability (p =0.0067)
	Molecular mechanisms disrupted		Gain of disorder (p =0.0099)

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