EGFRvIII is a truncated isoform of the epidermal growth factor receptor (EGFR).
The EGFRs (HER1-4) are a subfamily of the receptor tyrosine kinases. All family members consist of an
extracellular domain, a spacer region and an intracellular domain constituting the catalytic part.
The EGFRvIII gene has an in-frame deletion resulting in the deletion of amino acids 30-297 of the
extracellular domain and the generation of an extra glycine at the fusion point (see aa sequence).
This mutant variant is tumor specific and has not been found in normal tissues. EGFRvIII is
constitutively expressed and plays a key role in tumorigenicity, invasion and therapeutic resistance.
EGFRvIII preferentially activates the PI3K/Akt signaling pathway.
Source:
- original full-length DNA sequence for human EGFR;
aa sequence: