ALPL (P05186) variants and mutations

ALPL (also known as P05186) is a human protein-coding gene encoding an alkaline phosphatase, tissue-nonspecific isozyme protein. It hydrolyzes extracellular pyrophosphate and other phosphate-containing substrates, enabling normal mineralization of bone and teeth. Loss-of-function variants cause hypophosphatasia, with severity ranging from lethal perinatal skeletal hypomineralization to adult fractures and dental disease. This analysis covers 1,006 ALPL variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes hypophosphatasia, infantile hypophosphatasia, and adult hypophosphatasia. Example ALPL variants include M1I, M1V, and I2N.

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 ALPL variants

Examples include M1I, M1V, I2N, I2T, I2V, S3S, S3N, S3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.