Table 3

New variants observed in patients 1, 2 and 4
Variants Prediction (PolyPhen-2) Prediction (SIFT) Prediction (AGVGD) Grantham score ([0–215])
Patient 1–2CDH23NM_022124.4:c.5527 G > T Chr10(NCBI 36):g.73214678 G > T p.Asp1843Tyr Probably damaging Not tolerated Most likely interfere with function (Class C65) 160
Patient 4
OTOFNM_194248.2:c.3263 T > C Chr2(NCBI 36):g.26550910 T > C p.Leu1088Pro Possibly damaging Not tolerated Less likely interfere with function (Class C0) 98

Source: Alamut version 1.53 (Interactive Biosoftware).

De Keulenaer et al.

De Keulenaer et al. BMC Medical Genomics 2012 5:17   doi:10.1186/1755-8794-5-17

Open Data