Volume 54, Issue 3, Pages (September 1998)

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Volume 54, Issue 3, Pages 720-730 (September 1998) Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain Henny H. Lemmink, Nine V.A.M. Knoers, Lothar Károlyi, Henk van Dijk, Patrick Niaudet, Corinne Antignac, Lisa M. Guay-Woodford, Paul R. Goodyer, Jean-Claude Carel, Ad Hermes, Hansjörg W. Seyberth, Leo A.H. Monnens, Lambert P.W.J. van den Heuvel Kidney International Volume 54, Issue 3, Pages 720-730 (September 1998) DOI: 10.1046/j.1523-1755.1998.00070.x Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 1 Localization of SLC12A3 mutations on predicted NCCT protein. Predicted protein structure of NCCT protein with intracellular amino- and carboxy terminal domains 12. S1-S12 indicate transmembrane domains 1 to 12. Intron 18 and intron 24 donor splice site mutation are not drawn because they are not part of protein encoding sequences. Kidney International 1998 54, 720-730DOI: (10.1046/j.1523-1755.1998.00070.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 2 DNA sequence analysis of two SLC12A3 missense mutations identified in exon 18 from patient 3 (Table 2). Amino acid residues are indicated and the corresponding codons are underlined. The coding sequence (3′ to 5′ end) is shown for A, B, and C which are reverse sequences. D shows forward sequences with coding sequence from 5′ to 3′ end. Arrows indicate heterozygous nucleotide substitutions (=N). (A) Control sequence with Gly741 codon (GGG) and Leu738 codon (5′-CTG-3′). (B) Patient 3 with two heterozygous missense mutations (Gly741Arg and Leu738Arg). (C) The mother carries the heterozygous Gly741Arg substitution, while the father carries the heterozygous Leu738Arg substitution (D). Kidney International 1998 54, 720-730DOI: (10.1046/j.1523-1755.1998.00070.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 3 DNA sequence analysis of exon 16 in control (A), and patient 6 (B). Arrow indicates C to G nucleotide substitution which results in a homozygous threonine 649 to arginine amino acid substitution (Table 2). Kidney International 1998 54, 720-730DOI: (10.1046/j.1523-1755.1998.00070.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Figure 4 PCR-SSCP analysis of exon 16 in control, patient 6 and family members. Pedigree has been drawn with full symbols indicating affected persons, and open symbols with point are carriers. Arrows A indicate single-stranded DNA fragments in control and arrows B indicate shifted single-stranded DNA fragments. Carriers (heterozygous Thr649Arg mutation) show both A and B fragments (I-1, I-2, and II-2) while affected persons (homozygous Thr649Arg) reveal only B fragments (II-1, II-3, II-4, II-5, and II-7). Kidney International 1998 54, 720-730DOI: (10.1046/j.1523-1755.1998.00070.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Kidney International 1998 54, 720-730DOI: (10. 1046/j. 1523-1755. 1998 Kidney International 1998 54, 720-730DOI: (10.1046/j.1523-1755.1998.00070.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Kidney International 1998 54, 720-730DOI: (10. 1046/j. 1523-1755. 1998 Kidney International 1998 54, 720-730DOI: (10.1046/j.1523-1755.1998.00070.x) Copyright © 1998 International Society of Nephrology Terms and Conditions

Kidney International 1998 54, 720-730DOI: (10. 1046/j. 1523-1755. 1998 Kidney International 1998 54, 720-730DOI: (10.1046/j.1523-1755.1998.00070.x) Copyright © 1998 International Society of Nephrology Terms and Conditions