ATP6V1A (P38606) variants and mutations

ATP6V1A (also known as P38606) is a human protein-coding gene encoding a v-type proton ATPase catalytic subunit A protein. It provides ATP-hydrolyzing activity to the vacuolar proton pump, driving acidification of endosomes, lysosomes, and secretory vesicles. De novo pathogenic variants can cause developmental encephalopathy with epilepsy and intellectual disability. This analysis covers 725 ATP6V1A variants and mutations. Of these, 70% have computational variant effect predictions. Disease context includes genetic developmental and epileptic encephalopathy, developmental and epileptic encephalopathy 93, and neurodegenerative disease. Example ATP6V1A variants include D2E, D2G, and F3I.

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, MaveDB, LitVar.

Notable ATP6V1A variants

Examples include D2E, D2G, F3I, F3F, S4P, S4Y, S4S, K5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.