KRIT1 (O00522) variants and mutations

KRIT1 (also known as O00522) is a human protein-coding gene encoding a krev interaction trapped protein 1 protein. It helps maintain endothelial junctions and vascular integrity as part of the cerebral cavernous malformation signaling complex. Loss-of-function variants cause cerebral cavernous malformation type 1 and predispose to fragile vascular lesions in the brain and spinal cord. This analysis covers 1,128 KRIT1 variants and mutations. Of these, 73% have computational variant effect predictions. Example KRIT1 variants include M1?, M1V, and N3S.

Variant analysis overview

Variant and mutation evidence

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, MaveDB, LitVar.

Notable KRIT1 variants

Examples include M1?, M1V, N3S, P4T, E5Q, I7M, I7T, I7V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.