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Mutation Modelling and Comparison of Disease vs Neutral Mutations on…
Mutation Modelling and Comparison of Disease vs Neutral Mutations on Protein Structures
Introduction
What are proteins?
Why proteins are important
DNA → Protein
Amino acids
Protein folding
Mutation affects structure and function
Protein Structure
Primary Structure
Secondary Structure
Tertiary Structure
Quaternary Structure
Structure determines function
Structural stability
Protein Robustness
Definition
Robust proteins
Sensitive proteins
Mutation tolerance
Functional maintenance
Disease susceptibility
Mutations
Amino acid substitution
Neutral (Benign)
Minimal structural effect
Stable protein
Function retained
Pathogenic
Structural disruption
Destabilization
Misfolding
Disease
Research Gap
Millions of variants available
Functional impact unknown
Limited structural comparison
Need computational analysis
Need robustness assessment
Objectives
Compare benign vs pathogenic mutations
Model mutant proteins
Structural comparison
Feature extraction
Compare structural effects
Study robustness
Dataset
Mutation database
Protein structures
AlphaFold models
Wild-type proteins
Mutant proteins
Methodology
Collect mutations
Obtain WT structure
Model mutations
Generate mutant structures
Structure alignment
Feature extraction
Statistical comparison
Biological interpretation
Workflow
Mutation Dataset
WT Structure
Mutation Modelling
Mutant Structure
Alignment
Feature Extraction
CSV Generation
Statistical Analysis
Visualization
Structural Features
RMSD
Neighbor Residues
Residue Displacement
LSPS
pLDDT
pTM
Ranking Confidence
Secondary Structure
Completed Work
Mutation Modelling ✔
Structure Alignment ✔
Neighbor Analysis ✔
Displacement Analysis ✔
LSPS ✔
pLDDT Extraction ✔
pTM Extraction ✔
Rank Confidence ✔
Automation Pipeline ✔
344 Mutations
3706 Neighbor Residues
97,816 Residue Comparisons
Observations
Local structural changes
Pathogenic mutations show greater perturbation
Neighbor environment matters
Confidence remains high
Statistical validation ongoing
Future Work
Statistical tests
Feature importance
Machine Learning
Robustness score
Larger dataset
Experimental validation
Publication
Expected Outcome
Better variant interpretation
Disease prediction
Protein robustness understanding
Precision medicine
Protein engineering
Clinical genomics