ABL1 (Tyrosine-protein kinase ABL1) variants and mutations

ABL1 (also known as Tyrosine-protein kinase ABL1) is a human protein-coding gene encoding a tyrosine-protein kinase protein. It coordinates cytoskeletal remodeling, adhesion, DNA-damage responses, and growth signaling through tightly regulated tyrosine phosphorylation. Fusion with BCR removes normal control and creates the constitutively active kinase that drives chronic myeloid leukemia and subsets of acute lymphoblastic leukemia. This analysis covers 2,305 ABL1 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes chronic myelogenous leukemia, BCR-ABL1 positive, congenital heart defects and skeletal malformations syndrome, and acute lymphoblastic leukemia. Example ABL1 variants include L2M, L2L, and L2V.

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 ABL1 variants

Examples include L2M, L2L, L2V, L2W, L2F, E3*, E3A, E3D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.