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VPS35 Mutations in Parkinson Disease

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1 VPS35 Mutations in Parkinson Disease
Carles Vilariño-Güell, Christian Wider, Owen A. Ross, Justus C. Dachsel, Jennifer M. Kachergus, Sarah J. Lincoln, Alexandra I. Soto- Ortolaza, Stephanie A. Cobb, Greggory J. Wilhoite, Justin A. Bacon, Bahareh Behrouz, Heather L. Melrose, Emna Hentati, Andreas Puschmann, Daniel M. Evans, Elizabeth Conibear, Wyeth W. Wasserman, Jan O. Aasly, Pierre R. Burkhard, Ruth Djaldetti, Joseph Ghika, Faycal Hentati, Anna Krygowska-Wajs, Tim Lynch, Eldad Melamed, Alex Rajput, Ali H. Rajput, Alessandra Solida, Ruey-Meei Wu, Ryan J. Uitti, Zbigniew K. Wszolek, François Vingerhoets, Matthew J. Farrer  The American Journal of Human Genetics  Volume 89, Issue 1, Pages (July 2011) DOI: /j.ajhg Copyright © 2011 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees with VPS35 Mutations
Individual pedigrees are labeled and numbered according to their geographic origin (CH, Switzerland; US, United States; TN, Tunisia; YE, Yemenite Jews from Israel). An asterisk indicates an inferred mutation carrier. Filled symbols indicate affected individuals, and the corresponding age at disease onset is indicated; na, not available. Heterozygote mutation carriers (M) and wild-type (wt) genotypes are indicated. (A) Original family used for exome sequencing and identification of VPS35 p.Asp620Asn. (B) Additional kindreds presenting VPS35 p.Asp620Asn mutations. (C) Pedigree presenting the p.Pro316Ser variant. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

3 Figure 2 VPS35 Mutations and Cross-species Conservation
Protein orthologs were aligned via ClustalW. Amino acid positions for VPS35 p.Pro316Ser and p.Asp620Asn are highlighted in black. Protein orthologs with amino acid positions differing from those of the human sequence are indicated in gray. RefSeq accession numbers: Homo sapiens, NP_ ; Pan troglodytes, XP_ ; Mus musculus, NP_ ; Rattus norvegicus, XP_ ; Bos taurus, NP_ ; Canis familiaris, XP_ ; Gallus gallus, NP_ ; Xenopus laevis, NP_ ; Danio rerio, NP_ ; Drosophila melanogaster, NP_ ; and Saccharomyces cerevisiae, NP_ An asterisk indicates that five aminoacids have been excluded from Drosophila melanogaster and Saccharomyces cerevisiae at this position. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

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