hTERT variants | Outcome

Mutation Viewer

Please choose a missense mutation of interest from the heatmap, and click to get protein structural information .

Missense Mutation Selection

Result	Note
Mutation	Missense mutations are coordinated by the wild-type amino acid at the bottom (x-axis) and the mutant amino acid on the left (y-axis). Wild-type positions are based on canonical sequence.
Prediction	Predicted phenotypes, with a corresponding confidence score
Secondary Structure	Secondary structure at the mutation site: Helix, Strand, or Loop .
Relative solvent accessibility (RSA)	This feature (range: 0-1) describes how the residue is exposed to solvent. A residue with a low RSA (e.g. < 20%) is usually located in the buried reigon, while a resiude with a high RSA (e.g. > 20%) is usually more exposed to solvent / closer to the surface.
Phi & Psi	Peptide torsion angles of the wild-type residue.
B-factor	B-factor represents the quality of residue determined by experiment.
Distance to PPI / NA	Distance from mutation site to the protein-protein interaction (PPI) binding interface / protein-nucleic acid (NA) interface.
Protein stability	In-silico biophysical measurement of the change of protein stability (ΔΔG), computed by DDMut . We used 0 as a cutoff: ΔΔG < 0 Kcal/mol means this mutation is destabilising the structure; ΔΔG > 0 Kcal/mol means this mutation is stabilising the structure; ΔΔG = 0 Kcal/mol refers to netural effect.
AlphaMissense prediction	Variant effect predictor built on AlphaFold2 . According to AlphaMissense, the cutoffs to classify variants are 0.34 and 0.564. AlphaMissense_score < 0.34 means this mutation is "likely_benign"; AlphaMissense_score > 0.564 means this mutation is "likely_pathogenic"; AlphaMissense_score in (0.34, 0.564) means this mutation is "ambigious" in phenotypes.
ESM1b prediction	Prediction of disease variant effects using a deep protein language model . There is no specific cutoff to define pathogenic variants. But, the smaller the ESM1b_score is, the more likely this variant can be disease-causing.

Structure Viewer

                                    
                                    Displayed structure
                                
                                    Background
                                
                                    Representation
                                
                                    Colour Scheme info_outline
                                
Colour scheme
                                                    
                                                                Option
                                                                Note
                                                            
                                                                Default
                                                                Default colour
                                                            
                                                                Pathogenicity
                                                                Average confidence to pathogenicity at this mutation site
                                                            
                                                                Protein stability
                                                                Average predicted change of protein stability at this mutation site, computed by DDMut
                                                            
                                                                Secondary Structure
                                                                Coloured by secondary structure
                                                            
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Option	Note
Default	Default colour
Pathogenicity	Average confidence to pathogenicity at this mutation site
Protein stability	Average predicted change of protein stability at this mutation site, computed by DDMut
Secondary Structure	Coloured by secondary structure

                                    
DNA / RNA

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TPP1 protein / Histone H2A/H2B

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Please select a mutation from the heatmap above to view structural changes.

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Saturation mutagenesis results

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