<p>Both predictors show a drop in sensitivity for disease mutations in IDR and D<b><i>→</i></b>D categories (A, B) and a drop in specificity for D<b><i>→</i></b>O mutations in Poly (C, D) and NES (E, F).</p
<p>Predicted number of potentially damaging and deleterious variants as predicted by computational t...
<p>Highly deleterious by SIFT, Probably and possibly damaging by PolyPhen2 and disease/neutral by I-...
<p>For each panel, rows correspond to tumor samples and columns correspond to genes. Within the matr...
<p>In the heatplots (panels A, B, C, D) wild-type residues are on the Y-axes and the mutant residues...
<p>(A) Distributions of FoldX ΔΔG scores for MSH2 variants tested in this work with short (red), int...
<p>SIFT, Polyphen-2, PhyloP, LRT, Mutation Taster, and GERP++ are functional prediction scores in wh...
<p>Cumulative distributions of mutant allele frequencies (heteroplasmy levels) for different mutatio...
<p>Y-axes show fractions of all D→O and O→D mutations that cause loss or gain of the predicted α-MoR...
<p><b>Polyphen-2</b> - score 0 to1 shows low to high confidence for probability of protein damaging....
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
<p><b>(A)</b> A comparison between the observed enzymatic activity for each variant, sorted from low...
<p>Predicted effects due to the mutations in <i>MYBPC1</i> using SIFT and PolyPhen-2.</p
<p>Transitions from helix or strand to loop and <i>vice versa</i> are significantly enriched in dise...
<p>PolyPhen-2 classifies qualitatively a mutation as benign, possibly damaging, or probably damaging...
<p><sup>a</sup> Pyruvate kinase M2 nsSNPs predicted as damaging by both SIFT,PolyPhen and PANTHER.</...
<p>Predicted number of potentially damaging and deleterious variants as predicted by computational t...
<p>Highly deleterious by SIFT, Probably and possibly damaging by PolyPhen2 and disease/neutral by I-...
<p>For each panel, rows correspond to tumor samples and columns correspond to genes. Within the matr...
<p>In the heatplots (panels A, B, C, D) wild-type residues are on the Y-axes and the mutant residues...
<p>(A) Distributions of FoldX ΔΔG scores for MSH2 variants tested in this work with short (red), int...
<p>SIFT, Polyphen-2, PhyloP, LRT, Mutation Taster, and GERP++ are functional prediction scores in wh...
<p>Cumulative distributions of mutant allele frequencies (heteroplasmy levels) for different mutatio...
<p>Y-axes show fractions of all D→O and O→D mutations that cause loss or gain of the predicted α-MoR...
<p><b>Polyphen-2</b> - score 0 to1 shows low to high confidence for probability of protein damaging....
<p>Fisher's exact test using the SPSS was used for statistical analysis of novel mutations. A <i>p</...
<p><b>(A)</b> A comparison between the observed enzymatic activity for each variant, sorted from low...
<p>Predicted effects due to the mutations in <i>MYBPC1</i> using SIFT and PolyPhen-2.</p
<p>Transitions from helix or strand to loop and <i>vice versa</i> are significantly enriched in dise...
<p>PolyPhen-2 classifies qualitatively a mutation as benign, possibly damaging, or probably damaging...
<p><sup>a</sup> Pyruvate kinase M2 nsSNPs predicted as damaging by both SIFT,PolyPhen and PANTHER.</...
<p>Predicted number of potentially damaging and deleterious variants as predicted by computational t...
<p>Highly deleterious by SIFT, Probably and possibly damaging by PolyPhen2 and disease/neutral by I-...
<p>For each panel, rows correspond to tumor samples and columns correspond to genes. Within the matr...