COL4A3 (Collagen alpha-3(IV) chain) variants and mutations

COL4A3 (also known as Collagen alpha-3(IV) chain) is a human protein-coding gene encoding a collagen alpha-3(IV) chain protein. It contributes to the alpha3-alpha4-alpha5 type IV collagen network that forms the specialized basement membrane of the renal glomerulus, cochlea, and eye. Pathogenic variants cause Alport-spectrum disease and thin-basement-membrane nephropathy, with variable kidney and hearing involvement. This analysis covers 2,407 COL4A3 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes autosomal dominant Alport syndrome, Alport syndrome 3b, autosomal recessive, and Alport syndrome. Example COL4A3 variants include M1L, M1T, and M1V.

Variant analysis overview

Gene: COL4A3
Protein: Collagen alpha-3(IV) chain
UniProt accession: Q01955
Organism: Homo sapiens
Variants analyzed: 2407
Variant scope: all variants
Completed: 2026-08-19

Variant and mutation evidence

Variant composition: 2,213 unspecified-consequence records; 114 missense variants; 51 synonymous variants; 14 frameshift variants; 4 in-frame deletions; 1 in-frame insertions; 6 splice-region variants; 3 stop-gained variants; 1 substitution
Prediction scores: 1,831 variants have prediction scores (76% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: autosomal dominant Alport syndrome, Alport syndrome 3b, autosomal recessive, Alport syndrome, autosomal recessive Alport syndrome, Hematuria, Benign familial neonatal seizures, Dupuytren Contracture, hematuria, benign familial, 2, hematuria, benign familial, 1, hereditary disease, hematuria, benign familial, albuminuria.

Protein structure and variant hotspots

Protein features: 1 domains; 1 post-translational modification sites.
Structural context: 263 variants have structural context.
PTM context: 1 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, ClinGen, MaveDB, LitVar.

Notable COL4A3 variants

Examples include M1L, M1T, M1V, S2R, S2I, S2S, A3T, A3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

COL4A3 analysis run — COL4A3 (2,407 variants) — completed 2026-08-19