GRIN1 (Q05586) variants and mutations

GRIN1 (also known as Q05586) is a human protein-coding gene encoding a glutamate receptor ionotropic, NMDA 1 protein. It provides an obligatory subunit of NMDA receptors and is essential for glutamate-dependent synaptic transmission, calcium signaling, and plasticity. Pathogenic variants can cause GRIN1-related neurodevelopmental disorder with intellectual disability, movement abnormalities, epilepsy, and cortical visual impairment. This analysis covers 193 GRIN1 variants and mutations. Of these, 91% have computational variant effect predictions. Disease context includes neurodevelopmental disorder with or without hyperkinetic movements and seizures, Alzheimer disease, and Parkinson disease. Example GRIN1 variants include S2R, S2I, and S2N.

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 GRIN1 variants

Examples include S2R, S2I, S2N, T3A, T3T, M4T, M4I, R5C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.