Fig. 2

Sanger sequencing of the pathogenic SPTB c.C4873T mutation in proband D and the localization of the mutation in schematic diagram of β-spectrin. A heterozygous c.C4873T (p.R1625X) mutation in SPTB gene, which encodes β-spectrin, was identified in proband D. Human erythroid β-spectrin molecule consists of two N-terminal calponin homology (CH) domains responsible for actin binding and seventeen β-spectrin repeats including dimerization domain (repeats 1 and 2), Ankyrin binding domain (repeats 14 and 15) and a tetramerization domain (repeats 16 and 17). The nonsense R1625X mutation was located on β-spectrin repeat 13. The red arrow indicates C4873T mutation detected in Sanger sequencing. The asterisk indicates the position of R1625X mutation in β-spectrin. SPTB, spectrin β