F13B (Coagulation factor XIII B chain) variants and mutations

F13B (also known as Coagulation factor XIII B chain) is a human protein-coding gene encoding a coagulation factor XIII B chain protein. It circulates bound to the catalytic factor XIII A subunits and stabilizes them in plasma before clotting activation. Biallelic deficiency lowers circulating factor XIII and can cause a bleeding tendency, generally milder than complete F13A1 deficiency. This analysis covers 1,110 F13B variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes congenital factor XIII deficiency, age-related macular degeneration, and macular degeneration. Example F13B variants include R2K, L3F, and K4E.

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, ClinGen, MaveDB, LitVar.

Notable F13B variants

Examples include R2K, L3F, K4E, T7I, I9F, I11T, L12*, L12S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.