APOH (Beta-2-glycoprotein 1) variants and mutations

APOH (also known as Beta-2-glycoprotein 1) is a human protein-coding gene encoding a beta-2-glycoprotein 1 protein. It binds negatively charged phospholipids and participates in coagulation, lipid metabolism, and clearance of apoptotic material. It is also the major antigen recognized by pathogenic antiphospholipid antibodies in antiphospholipid syndrome. This analysis covers 680 APOH variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes atrial fibrillation, Hypercholesterolemia, and metabolic syndrome. Example APOH variants include M1?, S3Y, and P4L.

Variant analysis overview

Gene: APOH
Protein: Beta-2-glycoprotein 1
UniProt accession: P02749
Organism: Homo sapiens
Variants analyzed: 680
Variant scope: all variants
Completed: 2026-08-22

Variant and mutation evidence

Variant composition: 460 unspecified-consequence records; 1 stop retained variant; 8 stop-gained variants; 83 synonymous variants; 98 missense variants; 21 frameshift variants; 2 splice-region variants; 6 in-frame deletions; 2 in-frame insertions
Prediction scores: 543 variants have prediction scores (80% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: atrial fibrillation, Hypercholesterolemia, metabolic syndrome, familial lipoprotein lipase deficiency, atrial flutter, alcohol drinking, response to statin, ovarian endometriosis, chronic obstructive pulmonary disease, cardiac arrhythmia, autoimmune disorder of central nervous system, bronchopneumonia.

Protein structure and variant hotspots

Protein features: 4 domains; 6 post-translational modification sites.
Structural context: 452 variants have structural context.
PTM context: 12 variants overlap post-translational modification sites.

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 APOH variants

Examples include M1?, S3Y, P4L, P4S, V5A, L6F, L6H, L6V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

APOH analysis run — APOH (680 variants) — completed 2026-08-22