Volume 64, Issue 5, Pages (November 2003)

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Volume 64, Issue 5, Pages 1580-1587 (November 2003) Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains Matthias T.F. Wolf, Bettina E. Mucha, Massimo Attanasio, Isabella Zalewski, Stephanie M. Karle, Hartmut P.H. Neumann, Nazneen Rahman, Birgit Bader, Conrad A. Baldamus, Edgar Otto, Ralph Witzgall, Arno Fuchshuber, Friedhelm Hildebrandt Kidney International Volume 64, Issue 5, Pages 1580-1587 (November 2003) DOI: 10.1046/j.1523-1755.2003.00269.x Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 1 Mutations in theUromodulin (UMOD) gene. The upper sequence shows the wild-type (WT) sequence and the lower sequence reveals the mutation (MUT) in each family. The resulting amino acids are indicated below sequences. All mutations are located in exon 4. (A) In affected individuals of family F524, a heterozygous C779A substitution was detected resulting in a Thr225Lys amino acid exchange. (B) Affected individuals in family F739 showed a heterozygous C849G substitution, causing a Cys248Trp change. (C) Affected subjects in F762 carried heterozygously a 12bp deletion together with an insertion of nine nucleotides (383del12/ins9). The deleted nucleotides are indicated in underlined and bold. The inserted nucleotides are shown in red. Because of this mutation five amino acids are replaced by four different ones. The pedigree was recently published [20]. Arrows denote individuals in whom DNA was available for haplotype analysis. Kidney International 2003 64, 1580-1587DOI: (10.1046/j.1523-1755.2003.00269.x) Copyright © 2003 International Society of Nephrology Terms and Conditions

Figure 2 Comparison of the amino acid conservation in exon 3 and 4 (in which all mutations up to now were found) through evolution, using the CLUSTAL W (1.81) multiple sequence alignment software [27]. Shown is the amino acid sequence of the Uromodulin protein equivalent from Homo sapiens, Bos taurus, Mus musculus, and Rattus norvegicus. To underline the high degree of conversation with the zymogen granule membrane protein (GP2), the GP2 amino acid of Canis familiaris is indicated in the bottom row. The three calcium-binding endothelial growth facor (EGF)-like domains are highlighted in light gray, dark gray, and black. These domains were found using the consensus sequence of calcium-binding EGF-like domains in the NCBI Conserved Domain Database [28]. The amino acids affected by the mutations identified in patients with MCKD2 are indicated by arrows. Amino acid numbering is shown on the right margin for Homo sapiens UMOD. Kidney International 2003 64, 1580-1587DOI: (10.1046/j.1523-1755.2003.00269.x) Copyright © 2003 International Society of Nephrology Terms and Conditions