List of Non-Val30Met mutations reported to the FAPWTR

 

TTR Mutation Organ Year of first tx Hospital Country
Cys10Arg Liver 2008 Hôpital Paul Brousse, Paris France
Leu12Pro Liver 2003 J Gutenberg-Universität Mainz Germany
Asp18Glu Liver and previous heart 2001 J Gutenberg-Universität Mainz Germany
  Liver 2003 Mayo Clinic Hospital, Phoenix USA
  Liver + heart + kidney 2005 Mayo Clinic College of Medicine, Rochester USA
  Liver 2014 Univ of Maryland Medical Center, Baltimore USA
Val20Ile Liver and previous heart 2003 J Gutenberg-Universität Mainz Germany
Pro24Ser Liver + Heart 2005 Mayo Clinic College of Medicine, Rochester USA
  Liver + Heart 2011 Hôpital Paul Brousse, Paris France
Ala25Ser Liver 2001 UCSF Medical Center, San Francisco USA
Val28Met Liver 2004 Hospital de Curry Cabral, Lisbon Portugal
  Liver 2008 Hôpital Paul Brousse, Paris France
Liver 2009 Hospital Bellvitge, Barcelona Spain
Val30Ala Liver 2000 Queen Mary Hospital, Hongkong China
Val30Leu Liver 1998 University of Tokyo Japan
  Liver 2003 Shinshu Univ School of Medicine, Matsumoto Japan
Val32Ala Liver 2009 Mayo Clinic College of Medicine, Rochester USA
Val32Gly Liver 2004 Hôpital Paul Brousse, Paris France
Phe33Cys Liver 2001 Lahey Medical Center, Burlington USA
Phe33Leu Liver + heart 1999 J Gutenberg-Universität Mainz Germany
  Liver + heart 2001 King´s College Hospital, London UK
  Liver 2005 Sahlgrenska University Hospital, Gothenburg Sweden
Liver 2010 Mayo Clinic Hospital, Phoenix USA
Phe33Val Liver 2003 Univ of Bologna/Bellaria Hospital Italy
  Liver 2006 King´s College Hospital, London UK
  Liver 2008 Kumamoto University Hospital Japan
Arg34Thr Liver 1996 Univ of Bologna/Bellaria Hospital Italy
  Liver + heart 2009 Singapore General Hospital Singapore
Lys35Asn Liver 2002 Hôpital Paul Brousse, Paris France
Ala36Pro Liver 1994 Cleveland Clinic, Cleveland USA
Liver 2001 Flinders Medical Center, Bedford Park Australia
Asp39Val Liver 2011 CHU Sart Tilman, Liège Belgium
Glu42Asp Liver 2003 Hôpital Paul Brousse, Paris France
Glu42Gly Liver 1992 Deaconess Hospital, Harvard Med School, Boston USA
  Liver 1992 Cleveland Clinic USA
  Liver 1996 Medizinische Hochschule Hannover Germany
Ala45Asp Liver 2005 Mayo Clinic College of Medicine, Rochester USA
Ala45Ser Liver 2006 Sahlgrenska University Hospital, Gothenburg Sweden
  Liver 2012 Penn Transplant Center, Philadelphia USA
Ala45Thr Liver 1993 Deaconess Hospital, Harvard Med School, Boston USA
Gly47Ala Liver 1993 Medizinische Hochschule Hannover Germany
  Liver 1997 Univ of Bologna/Bellaria Hospital Italy
Liver + heart 2009 Mayo Clinic College of Medicine, Rochester USA
Liver 2010 Hôpital Paul Brousse, Paris France
Gly47Arg Liver 1995 Univ of Bologna/Bellaria Hospital Italy
      Liver  2005  Hôpital Paul Brousse, Paris  France
Gly47Glu Liver 1998 J Gutenberg-Universität Mainz Germany
  Liver 2002 Academisch Ziekenhuis Groningen Netherlands
  Liver, Liver + heart 2008 Mayo Clinic College of Medicine, Rochester USA
Gly47Val Liver 2012 Mayo Clinic Hospital, Phoenix USA
Thr49Ala Liver 1993 Pellegrin Hospital, Bordeaux France
  Liver 1996 Hôpital Paul Brousse, Paris France
  Liver, Liver + heart 2003 Univ of Bologna/Bellaria Hospital Italy
  Liver 2004 J Gutenberg-Universität Mainz Germany
Thr49Ile Liver 2009 Hospital Edouard Herriot, Lyon France
Thr49Pro Liver 2010 Lahey Medical Center, Burlington USA
 Ser50Arg Liver 1998 University Hospital, Gent Belgium
Liver, Liver and previous heart, Liver and sequential heart 1998 Klinikum der Univ Heidelberg Germany
Liver 1998 Univ of Bologna/Bellaria Hospital Italy
  Liver 2000 Hospital Ramón y Cajal, Madrid Spain
  Liver 2001 Hôpital Paul Brousse, Paris France
  Liver 2002 Hokkaido University Shool of Medicine Japan
Liver 2009 Shinshu Univ School of Medicine, Matsumoto Japan
Ser50Ile Liver 1994 Princess Alexandra Hospital, Brisbane Australia
  Liver 2003 Kumamoto University Hospital Japan
Ser52Pro Liver 1993 King´s College Hospital, London UK
  Liver 1993 Royal Free and Univ Coll Med School, London UK
  Liver 1998 Hospitais Da Univ de Coimbra Portugal
  Liver 1999 Hospital Geral de Santo António, Porto Portugal
  Liver 2009 Hospital de Curry Cabral, Lisbon Portugal
Glu54Gly Liver 1995 Princess Alexandra Hospital, Brisbane Australia
  Liver 2011 Mayo Clinic College of Medicine, Rochester USA
Glu54Gln Liver + heart 2012 Duke Transplant Center, Durham USA
Glu54Leu Liver and previous heart 2015 Sahlgrenska University Hospital, Gothenburg Sweden
Glu54Lys Liver 2003 Princess Alexandra Hospital, Brisbane Australia
Leu55Gln Liver 2006 Karolinska University Hospital Huddinge, Stockholm Sweden
Leu58His Liver 1994 Medical Univ of South Carolina, Charleston USA
  Liver 1994 Deaconess Hospital, Harvard Med School, Boston USA
  Liver 2002 Lahey Medical Center, Burlington USA
  Liver 2004 Hôpital Paul Brousse, Paris France
  Liver 2005 University of Maryland Medical Center, Baltimore USA
  Liver 2006 J Gutenberg-Universität Mainz Germany
  Liver 2011 Mayo Clinic Hospital, Phoenix USA
Thr59Lys Liver + heart 2009 Mayo Clinic College of Medicine, Rochester USA
  Liver 2009 Klinikum der Univ Heidelberg Germany
Thr60Ala Liver + heart 1993 Thomas E Starzl Institute, Pittsburgh USA
  Liver 1995 UCSF Medical Center, San Francisco USA
  Liver, Liver + heart 1996 Mayo Clinic College of Medicine, Rochester USA
  Liver 1997 King´s College Hospital, London UK
  Liver 1998 Lahey Medical Center, Burlington USA
  Liver 2000 University of North Carolina Hospitals, Chapel Hill USA
  Liver, Liver + heart 2002 London Health Sciences Centre, Ontario Canada
Phe64Leu  Liver 2002 Univ of Bologna/Bellaria Hospital Italy
Phe64Ser Liver 2000 Hôpital Cantonal, Geneve Switzerland
Gly67Glu Liver 2008 Queen Mary Hospital, Hongkong China
Ile68Leu Liver + heart 2005 Univ of Bologna/Bellaria Hospital Italy
Val71Ala Liver 1991 Grupo de Estudio de la PAF, Palma de Mallorca Spain
  Liver 1997 Academisch Ziekenhuis Groningen Netherlands
  Liver 2001 Hospital Universitari Bellvitge, Barcelona Spain
  Liver 2003 King´s College Hospital, London UK
  Liver 2007 Hôpital Paul Brousse, Paris France
Ser77Phe Liver 2001 Hôpital Paul Brousse, Paris France
Ser77Tyr Liver + heart 1992 King´s College Hospital, London UK
  Liver 1992 Royal Free and Univ Coll Med School, London UK
  Liver 1993 Hôpital Paul Brousse, Paris France
  Liver 1994 La Fe Hospital, Valencia Spain
  Liver + heart + kidney, Liver, Liver and previous heart, Liver and sequential heart 2000 Mayo Clinic College of Medicine, Rochester USA
  Liver and sequential heart 2001 UCSF Medical Center, San Francisco USA
  Liver + heart 2001 Thomas E Starzl Institute, Pittsburgh USA
  Liver 2013 Pellegrin Hospital, Bordeaux France
  Liver 2015 Hôpital Hautepierre, Strasbourg France
Ile84Thr Liver 1997 King´s College Hospital, London UK
His88Arg Liver and previous heart 2014 Sahlgrenska University Hospital, Gothenburg Sweden
Glu89Gln Liver, Liver + heart 1993 Univ of Bologna/Bellaria Hospital Italy
  Liver 1994 Deaconess Hospital, Harvard Med School, Boston USA
  Liver + heart 1999 King´s College Hospital, London UK
  Liver 2000 London Health Sciences Centre, Ontario Canada
  Liver 2005 University of Liège Belgium
Liver 2010 Flinders Medical Center, Bedford Park Australia
Glu89Lys Liver + heart 1999 Mayo Clinic College of Medicine, Rochester USA
Liver, Liver and previous heart 2005 J Gutenberg-Universität Mainz Germany
Liver + heart 2009 University of Miami USA
  Liver and previous heart 2009 Hospital Bellvitge, Barcelona Spain
  Liver and previous heart 2009 Hôpital Cantonal, Geneve Switzerland
  Liver and previous heart 2011 Hospital Vall D'Hebron, Barcelona Spain
Val94Ala Liver + kidney 2004 UCSF Medical Center, San Francisco USA
Ala97Gly Liver 2005 J Gutenberg-Universität Mainz Germany
Ala97Ser Liver 2011 Karolinska University Hospital Huddinge, Stockholm Sweden
  Liver 2013 Taipei Veterans General Hospital Taiwan
Ile107Val Liver 1997 Klinikum der Univ Heidelberg Germany
  Liver 1999 Medizinische Hochschule Hannover Germany
  Liver 2000 J Gutenberg-Universität Mainz Germany
  Liver 2006 Hôpital Paul Brousse, Paris France
Leu111Met Liver, Liver + heart, Liver and previous heart 1998 Copenhagen University Hospital Denmark
Tyr114Cys Liver 1995 Northwestern Memorial Hospital, Chicago USA
  Liver 1995 Academisch Ziekenhuis Groningen Netherlands
  Liver 1999 Graduate School of Med. Sci, Kyushu Univ Japan
  Liver 1999 Kumamoto University Hospital Japan
  Liver 2003 UCSF Medical Center, San Francisco USA
Tyr116Ser Liver 2006 Hôpital Paul Brousse, Paris France
Ala120Ser Liver 2011 New York Presbyterian Hospital/Columbia University Medical Center USA
Val122Ile Liver + heart 2010 Mayo Clinic College of Medicine, Rochester USA
  Liver and previous heart 2011 Hospital Bellvitge, Barcelona Spain
Val122del Liver and previous heart 2011 Hospital Bellvitge, Barcelona Spain
Liver + heart 2012 Cliniques Universitaires Saint-Luc, Brussels Belgium
  Liver + heart 2012 Mayo Clinic College of Medicine, Rochester USA