Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing

Table 2 CDH23 mutations detected in this study

Nucleotide change	Amino acid change	Exon	Domain	Calcium-binding motif	In silico analysis			Family	Controls	Reference
					SIFT/Score¹	PolyPhen-2²	MUpro³
c.C719T	p.Pro240Leu	8	EC3	ㅡ	DAMAGING/0.02	0.999	−1	SR-106, SR-209	2/818	[5]
c.A1025G	p.Asn342Ser	11	EC3	DXNDN	DAMAGING/0	0.905	−1	SR-209	0/707	Novel
c.G4783A	p.Glu1595Lys	36	EC15	DRE	DAMAGING/0	0.987	−1	SR-106	0/707	[6]

¹Prediction of a change being damaging (<0.05) or tolerated.
²Prediction of a change being damaging (>0.85), possibly damaging (0.15-0.85) or benign (<0.15).
³Prediction of a change decreasing protein stability (<0) or increasing protein stability (>0) (confidence score between −1 and 1).