ATL1 (Atlastin-1) variants and mutations

ATL1 (also known as Atlastin-1) is a human protein-coding gene encoding an atlastin-1 protein. It promotes homotypic fusion of endoplasmic-reticulum membranes and is required for normal organization of the tubular ER network, especially in long axons. Dominant pathogenic variants are a common cause of hereditary spastic paraplegia type 3A. This analysis covers 761 ATL1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes hereditary spastic paraplegia 3A, Autosomal dominant spastic paraplegia type 3, and hereditary sensory and autonomic neuropathy type 1. Example ATL1 variants include A2T, A2V, and A2A.

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 ATL1 variants

Examples include A2T, A2V, A2A, K3E, K3Q, N4S, N4D, R5C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.