RIT1 (GTP-binding protein Rit1) variants and mutations

RIT1 (also known as GTP-binding protein Rit1) is a human protein-coding gene encoding a GTP-binding protein. It transmits growth and stress signals through RAS-MAPK and related pathways and is important in cardiovascular and nervous-system development. Germline activating variants cause Noonan syndrome, often with a high frequency of hypertrophic cardiomyopathy. This analysis covers 534 RIT1 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes Noonan syndrome, RASopathy, and Noonan syndrome and Noonan-related syndrome. Example RIT1 variants include M1?, D2A, and D2E.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable RIT1 variants

Examples include M1?, D2A, D2E, D2G, D2N, S3A, S3F, G4A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.