KRT3 (Keratin, type II cytoskeletal 3) variants and mutations

KRT3 (also known as Keratin, type II cytoskeletal 3) is a human protein-coding gene encoding a keratin, type II cytoskeletal 3 protein. It pairs with keratin 12 to build the corneal epithelial intermediate-filament network and maintain corneal surface integrity. Dominant pathogenic variants cause Meesmann corneal dystrophy with epithelial microcysts and recurrent irritation. This analysis covers 1,094 KRT3 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes corneal dystrophy, Meesmann, 2, Meesmann corneal dystrophy, and corneal dystrophy. Example KRT3 variants include S2G, S2N, and R3*.

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 KRT3 variants

Examples include S2G, S2N, R3*, R3K, Q4*, Q4E, Q4K, A5V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.