About Functional Hotspots

Functional hotspots (FHS for short) are specific regions within proteins that play crucial roles in protein function, structure, and interactions. These sites are often critical for understanding the impact of genetic variants.

Types of Functional Hotspots

Gene Inspector identifies and shows these types of FHS:

• Binding Site - Where other molecules attach to the protein
• Active Site - Where enzymatic reactions occur
• Modified Residue - Amino acids that have been chemically altered
• Cross-Link - Connections between protein parts
• Mutagenesis Site - Experimentally tested positions
• Glycosylation Site - Where sugar molecules attach
• Disulfide Bond - Strong sulfur-sulfur connections between parts of proteins
• Lipidation - Where fatty molecules attach to proteins

Why Functional Hotspots Matter

Understanding functional hotspots helps predict the impact of genetic variants:

• Variants in active sites often have severe functional consequences
• Binding site mutations can disrupt protein interactions
• Structural modifications may affect protein stability
• Post-translational modification sites influence protein regulation