CYP51A1 (Lanosterol 14-alpha demethylase) variants and mutations

CYP51A1 (also known as Lanosterol 14-alpha demethylase) is a human protein-coding gene encoding a lanosterol 14-alpha demethylase protein. A cytochrome P450 enzyme in the cholesterol-biosynthesis pathway. It removes a methyl group from lanosterol and related sterols, creating intermediates needed to make cholesterol and downstream steroid-related molecules. This analysis covers 761 CYP51A1 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes Developmental cataract, early-onset non-syndromic cataract, and cataract. Example CYP51A1 variants include A2P, A2V, and A3V.

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, PharmGKB, MaveDB, LitVar.

Notable CYP51A1 variants

Examples include A2P, A2V, A3V, A5P, A5T, L8V, L9P, Q14L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.