ELN (Elastin) variants and mutations

ELN (also known as Elastin) is a human protein-coding gene encoding an elastin protein. Its elastic fibers allow arteries, lungs, skin, and other tissues to stretch and recoil repeatedly without structural failure. Haploinsufficiency causes supravalvular aortic stenosis, while other pathogenic variants can cause autosomal dominant cutis laxa. This analysis covers 1,039 ELN variants and mutations. Of these, 66% have computational variant effect predictions. Disease context includes supravalvular aortic stenosis, cutis laxa, autosomal dominant 1, and autosomal dominant cutis laxa. Example ELN variants include M1T, M1V, and M1K.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable ELN variants

Examples include M1T, M1V, M1K, M1I, A2E, A2V, A2A, G3C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.