NOS1AP (O75052) variants and mutations

NOS1AP (also known as O75052) is a human protein-coding gene encoding a carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein. It regulates neuronal nitric-oxide signaling and interacts with proteins that influence cardiac repolarization and synaptic function. Common variants near the locus are reproducibly associated with QT-interval duration, but large-effect monogenic disease from NOS1AP variants is not well established. This analysis covers 666 NOS1AP variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes nephrotic syndrome, type 22, neurodegenerative disease, and Romano-Ward syndrome. Example NOS1AP variants include P2S, P2L, and P2P.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable NOS1AP variants

Examples include P2S, P2L, P2P, S3T, S3N, K4Q, K4R, T5A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.