PTH1R (Q03431) variants and mutations

PTH1R (also known as Q03431) is a human protein-coding gene encoding a parathyroid hormone/parathyroid hormone-related peptide receptor protein. It responds to parathyroid hormone and PTH-related peptide to coordinate calcium homeostasis and growth-plate development through cyclic-AMP and other pathways. Gain- and loss-of-function variants cause distinct skeletal disorders including Jansen metaphyseal chondrodysplasia and Blomstrand chondrodysplasia. This analysis covers 964 PTH1R variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes metaphyseal chondrodysplasia, Jansen type, chondrodysplasia Blomstrand type, and primary failure of tooth eruption. Example PTH1R variants include G2A, G2W, and G2V.

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

Notable PTH1R variants

Examples include G2A, G2W, G2V, G2E, G2G, T3A, T3S, T3I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.