KRT5 (Keratin, type II cytoskeletal 5) variants and mutations

KRT5 (also known as Keratin, type II cytoskeletal 5) is a human protein-coding gene encoding a keratin, type II cytoskeletal 5 protein. It pairs with keratin 14 to form the primary intermediate-filament scaffold of basal epidermal keratinocytes. Dominant pathogenic variants are a major cause of epidermolysis bullosa simplex, while other alleles can cause pigmentary disorders such as Dowling-Degos disease. This analysis covers 1,140 KRT5 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes epidermolysis bullosa simplex 2C, localized, epidermolysis bullosa simplex 2A, generalized severe, and epidermolysis bullosa simplex 2B, generalized intermediate. Example KRT5 variants include M1T, M1V, and R3C.

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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable KRT5 variants

Examples include M1T, M1V, R3C, R3H, Q4*, Q4P, S5*, S5L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.