Figure 4

Summary of results – showing properties of prioritized variations in Ataxia and mtSNP groups. The summary of the output generated by our method for the ataxia patients and mtSNP diseases. As is clear from the graph, some variations are prioritized in more than one dataset but some are unique to the phenotypes, represented as 'overlapping' and 'unique', respectively. Thus, these unique variations are still more potent targets for designing functional assays. All variations prioritized in Ataxia are unique. Further, of the total 92 prioritized variations only 5 have been reported. (Intolerant – Amino acids changes predicted deleterious by SIFT; Possibly/Probably damaging – Amino acids changes predicted deleterious by PolyPhen; Invariant – Present at invariant sites as predicted by PLHOST; Eba – tRNA variations Predicted deleterious by compensatory co-evolution method; AT – Ataxia; AD – Alzheimer's Disease; PD – Parkinson's Disease; T2DA – Type2 Diabetes With Angiopathy; T2D – Type2 Diabetes; OB – Obese; TH – Thin).