Ruta Valentonyte1, 11, Jochen Hampe1, 2, 11, Klaus Huse3, Philip Rosenstiel1, Mario Albrecht4, Annette Stenzel1, 2, Marion Nagy5, Karoline I Gaede6, 7, Andre Franke2, Robert Haesler1, Andreas Koch2, Thomas Lengauer4, Dirk Seegert8, Norbert Reiling6, Stefan Ehlers6, Eberhard Schwinger9, Matthias Platzer3, Michael Krawczak10, Joachim Müller-Quernheim7, Manfred Schürmann9
& Stefan Schreiber1, 21
Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
2
Kiel Center of the German National Genotyping Platform, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
3
Institute for Molecular Biotechnology, Beutenbergstra
e 11, 07745 Jena, Germany.
4
Max-Planck-Institute for Informatics, Stuhlsatzenhausweg 85, 66123 Saarbrücken, Germany.
5
Institute of Forensic Medicine, Charite University Hospital, Hannoversche Strae 6, 10115 Berlin, Germany.
6
Research Center Borstel, Parkallee 1-40, 23845 Borstel, Germany.
7
Department of Pneumology, University of Freiburg, Killian-Str.5, 79106 Freiburg, Germany.
8
Conaris Research Institute AG, Schauenburgerstr. 116, 24118 Kiel, Germany.
9
Institute of Human Genetics, University of Lübeck; Ratzeburger Allee 160, 23538 Lübeck, Germany.
10
Institute of Medical Statistics and Informatics, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.
11
These authors contributed equally to this work.
Correspondence should be addressed to Jochen Hampe j.hampe@mucosa.de
10-6, P
case-control = 1.1 
A transition constituting rs2076530 leads to the use of a cryptic splice site located 4 bp upstream of the affected wild-type donor site. Transcripts of the risk-associated allele have a premature stop in the spliced mRNA. The resulting protein lacks the C-terminal IgC domain and transmembrane helix, thereby disrupting the membrane localization of the protein, as shown in experiments using green fluorescent protein and V5 fusion proteins.
