PMP22 (Peripheral myelin protein 22) variants and mutations

PMP22 (also known as Peripheral myelin protein 22) is a human protein-coding gene encoding a peripheral myelin protein 22 protein. Its dosage is critical for normal Schwann-cell myelin formation and stability in peripheral nerves. Duplication causes Charcot-Marie-Tooth disease type 1A, deletion causes hereditary neuropathy with liability to pressure palsies, and point variants cause additional neuropathies. This analysis covers 423 PMP22 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes Charcot-Marie-Tooth disease type 1A, Dejerine-Sottas syndrome, and Charcot-Marie-Tooth disease type 1E. Example PMP22 variants include L3V, S7N, and I8M.

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, ClinGen, MaveDB, LitVar.

Notable PMP22 variants

Examples include L3V, S7N, I8M, I8N, I8S, I9N, I9V, L11R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.