FGG (Fibrinogen gamma chain) variants and mutations

FGG (also known as Fibrinogen gamma chain) is a human protein-coding gene encoding a fibrinogen gamma chain protein. It contributes the gamma chains of fibrinogen and provides binding sites important for fibrin polymerization, platelet interactions, and clot stabilization. Pathogenic variants can cause quantitative or qualitative fibrinogen disorders and, in some alleles, hereditary renal amyloidosis. This analysis covers 790 FGG variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes familial dysfibrinogenemia, congenital afibrinogenemia, and Familial afibrinogenemia. Example FGG variants include S2G, S2N, and S2R.

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 FGG variants

Examples include S2G, S2N, S2R, L5W, H6Q, H6Y, P7L, P7S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.