What functional hotspots are
Functional hotspots are specific regions within proteins that play important roles in protein function, structure, and interactions. They help users review whether a variant sits near a region that may matter biologically.
Types shown in Gene Inspector
Gene Inspector identifies hotspot categories such as binding sites, active sites, modified residues, cross-links, mutagenesis sites, glycosylation sites, disulfide bonds, and lipidation sites.
Why they matter
Variants in active sites can have severe functional consequences. Binding-site mutations can disrupt protein interactions. Structural modifications may affect protein stability, and post-translational modification sites can influence protein regulation.
How to interpret them
Functional hotspot context is an investigation signal, not a diagnosis. Use it with variant consequence, frequency, predictor scores, ClinVar, source evidence, genotype quality, and the biological question being reviewed.