. 2018 Dec 9;24:778–788.

Table 2. In silico pathogenicity analysis of novel RB1 variants and prediction of protein stability changes upon single amino acid mutations.

Cases	Mutation types	Prediction of pathogenicity							Prediction of protein stability change
Cases	Mutation types	MutPred2	MutationTaster	Polyphen-2	SIFT	PROVEAN	Human Splicing Finder	MaxEntScan	MUpro	iPTREE-STAB	iStable
RB723	MS	Disease-associated	Disease causing	Benign	Damaging	Neutral	-	-	Decreased stability	Stabilizing	Destabilizing
RB380	MS	Disease-associated	Disease causing	Probably damaging	Damaging	Deleterious	-	-	Decreased stability	Destabilizing	Destabilizing
RB709	FS	Pathogenic	Disease causing	-	-	-	-	-	-	-	-
RB103	FS	Pathogenic	Disease causing	-	-	-	-	-	-	-	-
RB339	FS	Pathogenic	Disease causing	-	-	-	-	-	-	-	-
RB140	SP	-	-	-	-	-	Broken WT acceptor site	Broken splice site	-	-	-

Novel variant in promoter region detected in RB214 and RB187 involves transcriptional initiation site [7]. Abbreviations: MS, missense; FS, frameshift; SP, splicing; WT, wild-type.