Molecular Vision: Mackay, Mol Vis 2011; 17:2706-2716. Table 3

Table 3. In silico analysis of identified RDH12 missense variants.

		SIFT		Polyphen-2		pMUT
Mutation	Exon	Prediction	Tolerance index	Prediction	Human Var score	NN output	Reliability	Prediction
p.T49M	2	Intolerant	0	PRD	0.951	0.4152	1	Neutral
p.T49K*	2	Intolerant	0.01	POS	0.888	0.6188	2	Pathological
p.C70Y*	3	Intolerant	0	PRD	0.998	0.9223	8	Pathological
p.L99I	3	Intolerant	0	PRD	0.991	0.1072	7	Neutral
p.H151D	5	Intolerant	0.01	PRD	0.992	0.3323	3	Neutral
p.F152I*	5	Intolerant	0	PRD	0.968	0.2127	5	Neutral
p.R161Q	5	Tolerant	0.38	Benign	0.018	0.513	0	Pathological
p.R161W*	5	Tolerant	0.18	POS	0.798	0.7723	5	Pathological
p.R169Q*	5	Intolerant	0	PRD	0.997	0.5161	0	Pathological
p.R169W*	5	Intolerant	0	PRD	0.999	0.8159	6	Pathological
p.S175L	5	Intolerant	0	PRD	0.997	0.2495	5	Neutral
p.Y200C	5	Intolerant	0	PRD	0.998	0.5467	0	Pathological
p.C201R	5	Tolerant	0.1	POS	0.769	0.5209	0	Pathological
p.S203R*	5	Intolerant	0	PRD	0.998	0.3381	3	Neutral
p.N207D	5	Intolerant	0.01	PRD	0.994	0.1661	6	Neutral
p.V233L	6	Intolerant	0.02	PRD	0.931	0.1899	6	Neutral
p.R239W	6	Intolerant	0	PRD	0.998	0.9122	8	Pathological

Changes highlighted by an asterisk are novel missense mutations identified in this study. SIFT results are reported to be tolerant if tolerance index ≥0.05 or intolerant if tolerance index <0.05. Polyphen-2 appraises mutations qualitatively as Benign, Possibly Damaging (POS) or Probably damaging (PRD) based on the model's false positive rate. pMUT is based on the use of different kinds of sequence information to label mutations, and neural networks to process this information NN=neural network values from 0 to 1. >0.5 is predicted as a disease associated mutation. Reliability=values 0–9. >5 is the best prediction.