ALDOB (Fructose-bisphosphate aldolase B) variants and mutations

ALDOB (also known as Fructose-bisphosphate aldolase B) is a human protein-coding gene encoding a fructose-bisphosphate aldolase B protein. It cleaves fructose-1-phosphate and fructose-1,6-bisphosphate during fructose and glucose metabolism in liver, kidney, and intestine. Biallelic loss-of-function variants cause hereditary fructose intolerance, in which fructose ingestion can trigger hypoglycemia, vomiting, and liver injury. This analysis covers 814 ALDOB variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes hereditary fructose intolerance, hereditary disease, and acute liver failure. Example ALDOB variants include M1L, M1R, and M1T.

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, MaveDB, LitVar.

Notable ALDOB variants

Examples include M1L, M1R, M1T, M1V, A2T, A2V, H3Q, R4*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.