CLDN10 (Claudin-10) variants and mutations

CLDN10 (also known as Claudin-10) is a human protein-coding gene encoding a claudin-10 protein. A tight-junction protein that forms ion-selective paracellular channels in epithelia. Variants can cause HELIX syndrome, which affects sweating, tear production, and electrolyte balance. This analysis covers 509 CLDN10 variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes helix rolling, Abnormality of the skeletal system, and nephrolithiasis. Example CLDN10 variants include M1T, A2T, and A2V.

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, MaveDB, LitVar.

Notable CLDN10 variants

Examples include M1T, A2T, A2V, S3R, S3F, S3S, S3I, T4M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.