AMH (Anti-Muellerian hormone) variants and mutations

AMH (also known as Anti-Muellerian hormone) is a human protein-coding gene encoding an anti-Muellerian hormone protein. During male fetal development, it drives regression of the Mullerian ducts and therefore prevents formation of female internal reproductive structures. Loss of AMH signaling can cause persistent Mullerian duct syndrome in otherwise virilized 46,XY individuals. This analysis covers 1,383 AMH variants and mutations. Of these, 99% have computational variant effect predictions. Disease context includes persistent Mullerian duct syndrome, Persistent Müllerian duct syndrome, and genetic non-acquired premature ovarian failure. Example AMH variants include R2G, R2L, and R2P.

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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable AMH variants

Examples include R2G, R2L, R2P, R2Q, R2W, R2R, D3A, D3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.