MBP (Myelin basic protein) variants and mutations

MBP (also known as Myelin basic protein) is a human protein-coding gene encoding a myelin basic protein. It compacts the cytoplasmic surfaces of myelin membranes and helps maintain the multilamellar structure required for rapid nerve conduction. Immune responses against myelin basic protein have long been studied in demyelinating disease, although common human multiple sclerosis is not caused by MBP mutations. This analysis covers 689 MBP variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes alcohol drinking, duodenal ulcer, and device complication. Example MBP variants include G2R, N3K, and N3T.

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 MBP variants

Examples include G2R, N3K, N3T, H4Y, A5G, A5S, A5T, G6S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.