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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes

Fig. 3

S Sanger sequencing of the pathogenic SLC4A1 c.G1469A mutation in proband W and the localization of the mutation in schematic diagram of band 3. A heterozygous c.G1469A (p.R490H) mutation in SLC4A1 gene, which encodes band 3, was identified in proband W. Band 3 consists of 14 transmembrane (TM) segments and short helical (H) segments linking TM segments. The missense R490H mutation was located on TM4. The red arrow indicates G1469A mutation detected in Sanger sequencing. The asterisk indicates the position of R490H mutation in band 3. SLC4A1, solute carrier family 4, anion exchanger, member 1

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BMC Medical Genetics

ISSN: 1471-2350

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