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/Score 1 | PolyPhen-2 2 | MUpro 3 | ||||||||
| 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).