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letter
. 2018 Feb 26;131(15):1759–1763. doi: 10.1182/blood-2018-01-827725

Figure 1.

Figure 1.

Hereditary spherocytosis due to a mutation in Band 3. (A) Clinical and laboratory data. (B) Incubated osmotic fragility. (C) EMA binding. Normal control cells (purple); stain control (gold); proband and parents’ cells (green). The 2 green peaks in the proband panel represent transfused cells (higher EMA fluorescence) and patient’s endogenous cells (lower EMA fluorescence). (D) Sequence conservation of Ser725 in SLC4A1 across vertebrate species, including the clades of placental mammals and the extant Eutherians. (E) Lack of sequence conservation of Ser725 in SLC4 transporters. There is no serine at position 725 in any of the other 9 SLC4 transporters. (F) Structure of SLC4A1 showing the location of Ser725 in the substrate-binding site of Band 3 between the N-termini of TM3 (light blue) and TM10 (gold). The side chain of Ser725 is only 3 Å away from Glu681, the proton-binding site located on TM8 (yellow). Mutation of serine to arginine at 725 is predicted to form a salt-bridge with Glu681, blocking anion transport. MCHC, mean corpuscular hemoglobin concentration; MCV, mean corpuscular volume.