PTH (Parathyroid hormone) variants and mutations

PTH (also known as Parathyroid hormone) is a human protein-coding gene encoding a parathyroid hormone protein. After secretion from the parathyroid glands, it raises extracellular calcium by acting on bone and kidney and indirectly increasing intestinal calcium absorption. Deficiency causes hypoparathyroidism, whereas excessive secretion produces hyperparathyroidism and characteristic skeletal and renal complications. This analysis covers 282 PTH variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes hypoparathyroidism, familial isolated 1, Familial isolated hypoparathyroidism, and neurodegenerative disease. Example PTH variants include M1?, I2L, and I2T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable PTH variants

Examples include M1?, I2L, I2T, I2V, P3L, P3P, P3S, A4A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.