What functional hotspots are
Functional hotspots are annotated positions or regions in proteins where a change can affect activity, binding, stability, or regulation. They help users check whether a variant sits near a known protein feature.
Types shown in Gene Inspector
Gene Inspector shows hotspot categories such as binding sites, active sites, modified residues, cross-links, mutagenesis sites, glycosylation sites, disulfide bonds, and lipidation sites.
Why they matter
A variant in an active site may change enzyme activity. A binding-site variant may change protein interactions. Variants at disulfide bonds, glycosylation sites, lipidation sites, or modified residues can affect stability, localization, or regulation.
How to interpret them
Treat a hotspot match as one review signal, not a diagnosis. Check it with variant consequence, allele frequency, predictor scores, ClinVar, source evidence, genotype quality, and the question being reviewed.