ALMS1 (Q8TCU4) variants and mutations

ALMS1 (also known as Q8TCU4) is a human protein-coding gene encoding a centrosome-associated protein. It contributes to primary-cilium function, intracellular trafficking, and metabolic homeostasis in multiple tissues. Biallelic pathogenic variants cause Alstrom syndrome, which typically combines retinal degeneration, hearing loss, obesity, insulin resistance, and cardiomyopathy. This analysis covers 6,651 ALMS1 variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes Alstrom syndrome, Bardet-Biedl syndrome, and Abnormality of the cardiovascular system. Example ALMS1 variants include M1?, M1I, and M1L.

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

Notable ALMS1 variants

Examples include M1?, M1I, M1L, M1R, M1V, E2*, E2D, E2Q. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.