TPO (Thyroid peroxidase) variants and mutations

TPO (also known as Thyroid peroxidase) is a human protein-coding gene encoding a thyroid peroxidase protein. It oxidizes iodide and catalyzes iodination and coupling reactions on thyroglobulin that generate thyroid hormones. Biallelic loss-of-function variants cause thyroid dyshormonogenesis and congenital hypothyroidism, usually with goiter if untreated. This analysis covers 1,998 TPO variants and mutations. Of these, 48% have computational variant effect predictions. Disease context includes familial thyroid dyshormonogenesis, hyperthyroidism, and hypothyroidism. Example TPO variants include A3T, A3V, and L4P.

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, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable TPO variants

Examples include A3T, A3V, L4P, L4R, L4L, A5S, A5T, A5V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.