Table 1. In silico predictions of functional effects for the two mutations identified in this study.

Prediction program		Cx50P59A	Cx50R76H
SIFT	Value (<0.05)	0.00	0.00
	Prediction	Not tolerated	Not tolerated
Polyphen-2	Score	0.999	0.995
	Prediction	probably damaging	probably damaging
PROVEAN	Score	−7.941	−4.772
	Prediction	deleterious	deleterious
Mutation Taster	Value	0.999	0.999
	Prediction	disease causing change the protein features	disease causing affected the splice site
PON-P2	Probability for pathogenicity	0.401	0.686
	Standard error	0.069	0.068
	Prediction	Unknown	Unknown
MutPred	Probability of deleterious mutation	0.810	0.952
	Molecular mechanisms disrupted	Gain of sheet (P = 0.1208) Loss of glycosylation at T56 (P = 0.2738) Gain of catalytic residue at P59 (P = 0.4651) Loss of disorder (P = 0.4751) Loss of stability (P = 0.5064)	Gain of glycosylation at S73 (P = 0.0849) Loss of stability (P = 0.1046) Gain of helix (P = 0.132) Loss of catalytic residue at R76 (P = 0.1676) Loss of sheet (P = 0.1907)