Table 2 of Rojanaporn, Mol Vis 2018; 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
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.

Rojanaporn, Mol Vis 2018; 24:778-788. http://www.molvis.org/molvis/v24/778

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