Figure legend
Figure 1. Identification of a novel ANK1 c.856C>T nonsense mutation in two patients from a Chinese family with hereditary spherocytosis. (A)Pedigree of Chinese family with HS. Squares indicate male and circles indicate female. Black symbols denote patients with HS. A black arrow indicates the Proband. (B)Peripheral blood smear. A black arrow indicates spherical-shaped erythrocytes. (C)Sanger sequencing identified an ANK1 c.856C>T mutation in the patients. A red arrow indicates the mutation site.
Figure 2. Protein spatial structure analysis. (A) Intact protein structure of ANK1. (B) Nonsense ANK1 mutation (c.856C>T, p.R286*), caused a substitution from Arginine acid to a premature stop at codon 286. A truncated ANK1 protein, losing the important spectrin-binding and regulatory C-terminal domains and leaving only partial of the N-domain.