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Fig. 5 | BMC Medical Genetics

Fig. 5

From: A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree

Fig. 5

Effect of SLC12A3 mutations on the modeled structure of the Na-Cl cotransporter (NCC) protein. Compared to the wild-type (a), c.1919A > G (b) alone caused three visible differences in the protein structure (marked with red and black frames), whereas c.2522A > G (c) alone led to one further difference (marked with a brown frame). Coexistence of c.1919A > G and c.2522A > G (d) resulted in three more differences (marked with purple frames)

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