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Fig. 3 | BMC Nephrology

Fig. 3

From: Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes

Fig. 3

The model structure of Na-Cl cotransporter (NCCT) protein with variants induced by novel mutations of SLC12A3 to show potential influence. The differences of modeled structure compared to wild type (A) were indicated in circles. The visible differences of protein structure was induced by (B) co-existence of c.433 C > T (p.Arg145Cys) and c.1666 C > T (p.Pro556Ser), or (C) c.1077 C > G (p.Asn359Lys) lead to differences from wild type protein structure. It may induce the alteration of the function of NCCT

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BMC Nephrology

ISSN: 1471-2369

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