GALT (P07902) variants and mutations

GALT (also known as P07902) is a human protein-coding gene encoding a galactose-1-phosphate uridylyltransferase protein. It converts galactose-1-phosphate and UDP-glucose into glucose-1-phosphate and UDP-galactose in the Leloir pathway. Biallelic deficiency causes classic galactosemia, in which dietary galactose can lead to neonatal liver failure, sepsis risk, cataracts, and long-term complications. This analysis covers 787 GALT variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes classic galactosemia, galactosemia, and hereditary disease. Example GALT 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, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable GALT variants

Examples include M1L, M1R, M1T, M1V, S2L, S2*, S2S, R3C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.