FLNB (Filamin-B) variants and mutations

FLNB (also known as Filamin-B) is a human protein-coding gene encoding a filamin-B protein. It crosslinks actin and organizes cytoskeletal signaling in cartilage, bone, and other tissues during development. Pathogenic variants cause a broad skeletal-dysplasia spectrum including atelosteogenesis, Larsen syndrome, and spondylocarpotarsal syndrome. This analysis covers 3,569 FLNB variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes Larsen syndrome, atelosteogenesis type I, and spondylocarpotarsal synostosis syndrome. Example FLNB variants include P2S, P2T, and P2L.

Variant analysis overview

Gene: FLNB
Protein: Filamin-B
UniProt accession: O75369
Organism: Homo sapiens
Variants analyzed: 3569
Variant scope: all variants
Completed: 2026-08-20

Variant and mutation evidence

Variant composition: 3,344 unspecified-consequence records; 105 missense variants; 97 synonymous variants; 7 stop-gained variants; 10 frameshift variants; 2 in-frame deletions; 1 in-frame insertions; 3 splice-region variants
Prediction scores: 2,487 variants have prediction scores (70% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Larsen syndrome, atelosteogenesis type I, spondylocarpotarsal synostosis syndrome, atelosteogenesis type III, Boomerang dysplasia, Autosomal dominant Larsen syndrome, Spondylocarpotarsal synostosis, Joubert syndrome and related disorders, open-angle glaucoma, hereditary disease, filamin-related bone disorder, glaucoma.

Protein structure and variant hotspots

Protein features: 2 domains; 26 post-translational modification sites.
Structural context: 410 variants have structural context.
PTM context: 36 variants overlap post-translational modification sites.
Experimental data: 90 protein positions have experimental scores. Source: FLNB Filamin/ABP280 repeat-like domain domainome 1.0.

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 FLNB variants

Examples include P2S, P2T, P2L, P2P, V3I, V3L, V3V, T4R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

FLNB analysis run — FLNB (3,569 variants) — completed 2026-08-20