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Rare Disease Mutation Analysis Tool

Analyze protein structures and mutations for rare genetic disorders

This tool integrates data from UniProt, PDB, and Reactome to provide comprehensive analysis of protein mutations.

Enter Gene and Mutation Information

Format: nucleotide change (protein change)

Example queries: PACS1 c.607C>T (p.Arg203Trp) | BRAF c.1799T>A (p.Val600Glu) | EGFR c.2369C>T (p.Thr790Met)

Fetching protein data and structures...

Mutation Overview
Gene Position
Protein Change From Amino Acid
Nucleotide Change To Amino Acid

Protein Structure Visualization

Method: -
Resolution: -
Released: -
Updated: -
DOI
Data source: PDB (Protein Data Bank) and AlphaFold

Pathway Information

Data source: Reactome