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Fig. 3 | BMC Medical Genetics

Fig. 3

From: A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report

Fig. 3

The schematic figure of the ClC-Kb protein. ClC-Kb is a transmembrane protein consisting of 18 α-helices (A to R) and 2 cystathionine-β-synthase domains. The α-helices involved in the selectivity filter, those interacting with Barttin, and those located at the dimer interface. The mutation of the deletion of exon 2–3 is located in α-helix B and C of ClC-Kb, involved in the dimer interface; and p. Glu566fs is located in the cystathionine-β-synthase 1 domain involved in channel common gating and trafficking. These mutations were predicted to result in the production of unstable mRNAs or truncated or absent proteins

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