Structure of the alpha beta spectrin dimer and mutations that cause hereditary elliptocytosis
This depiction of the erythrocyte spectrin tetramerization domain was created using UCSF Chimera software
[1] and based on the crystal structure
[2] deposited in protein database (PDB) as 3LBX.
- α-spectrin amino acid residues – Missense mutations have been reported to cause HE[3] or HPP when present in trans with a low-expression SPTA1 allele (most commonly α-LELY).
- β-spectrin amino acid residues – Heterozygosity for a pathogenic variant causes HE. Homozygosity or compound heterozygosity for pathogenic variants causes HPP.