LHCGR (P22888) variants and mutations

LHCGR (also known as P22888) is a human protein-coding gene encoding a lutropin-choriogonadotropic hormone receptor protein. It responds to luteinizing hormone and chorionic gonadotropin to stimulate gonadal steroidogenesis, ovulation, and male sexual differentiation. Activating variants can cause male-limited precocious puberty, whereas loss-of-function variants cause Leydig-cell hypoplasia or infertility. This analysis covers 1,366 LHCGR variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes Leydig cell hypoplasia, type 1, familial male-limited precocious puberty, and female infertility. Example LHCGR variants include K2Q, Q3H, and Q3K.

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, MaveDB, LitVar.

Notable LHCGR variants

Examples include K2Q, Q3H, Q3K, Q3L, R4Q, F5L, F5V, S6L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.