Table 2

CDH23mutations detected in this study
Nucleotide change Amino acid change Exon Domain Calcium-binding motif In silicoanalysis Family Controls Reference
SIFT/Score1 PolyPhen-22 MUpro3
c.C719T p.Pro240Leu 8 EC3 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).

Woo et al.

Woo et al. BMC Medical Genetics 2014 15:46   doi:10.1186/1471-2350-15-46

Open Data