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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report

Fig. 2

A simplified cross section diagram of erythrocyte membrane. Phospholipid bilayer is the basic scaffold of red blood cell membrane. Protein Ankyrin is marked in red to indicate damage due to gene mutation. At present, it has been found that 6 proteins Ankyrin; Spectrin alpha-chain; Spectrin beta-chain; Band 3; Protein 4.1 and Protein 4.2 paly a pathogenic role in Hereditary spherocytosis. The relative positions of proteins in various complexes are mostly unknown. The shapes of the major proteins are fictitious. GPA: glycophorin A; Rh: Rhesus polypeptide; B-4.1: protein band 4.1; B-4.2: protein band 4.2; GPC: glycophorin C; RhAG: Rh-associated glycoprotein

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