TG (Thyroglobulin) variants and mutations

TG (also known as Thyroglobulin) is a human protein-coding gene encoding a thyroglobulin protein. It provides the large iodinated scaffold on which thyroid hormones are synthesized and stored within thyroid follicles. Biallelic or dominant pathogenic variants can impair hormone production and cause congenital hypothyroidism, often with goiter. This analysis covers 4,024 TG variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes hypothyroidism, familial thyroid dyshormonogenesis, and Hashimoto thyroiditis. Example TG variants include M1?, M1I, 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, Protein Data Bank, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable TG variants

Examples include M1?, M1I, A2V, A2S, A2T, A2G, A2D, A2A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.