MSI1 (O43347) variants and mutations

MSI1 (also known as O43347) is a human protein-coding gene encoding a RNA-binding protein Musashi homolog 1 protein. It regulates translation and stability of selected messenger RNAs in neural and epithelial stem or progenitor cells. Abnormal expression can reinforce stem-like programs in cancers, although definitive Mendelian disease associations are limited. This analysis covers 633 MSI1 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes neurodegenerative disease, glioblastoma, and lumbar disc herniation. Example MSI1 variants include T3A, D4E, and A5E.

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 MSI1 variants

Examples include T3A, D4E, A5E, A5S, A5V, P6L, P8L, G9S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.