Nomenclature What is in a name? My name Joseˊ Jimenez = Bill Dana John L.C. Savony = Frank Fontaine

Nomenclature What is in a name? My name Joseˊ Jimenez = Bill Dana John L.C. Savony = Frank Fontaine

Three categories of Amyloid Terms 1. Amyloidologists, Amyloid Centers, Researchers official nomenclature 2. Medical personnel, Physicians, Nurses, Counselors 3. Patients and Families

Amyloidologists, Amyloid Centers, Researchers Nomenclature Committee meets biannually

Nomenclature Committee May 2014 Left to right: Merrill D. Benson Indianapolis, IN, Shu-ichi Ikeda Matsumoto, Maria J. Saraiva Porto, Portugal Per Westermark Uppsala, Sweden Jean D. Sipe Boston, MA, Giampaolo Merlini Pavia, Italy Joel N. Buxbaum La Jolla, CA, (not in picture)

Physicians, Nurses, Counselors FAP FAC ATTRm ATTRwt httrpn HFpEF

More confusion! Amyloid protein designation vs. Genetics designation V30M = V50M I107 V = I 127 V

Name 3-Letter Symbol 1-Letter Alanine Ala A Arginine Arg R Asparagine Asn N Aspartic acid Asp D Cysteine Cys C Glutamic Acid Glu E Glutamine Gln Q Glycine Gly G Histidine His H Isoleucine Ile I Leucine Leu L Lysine Lys K Methionine Met M Phenylalanine Phe F Proline Pro P Serine Ser S Threonine Thr T Tryptophan Trp W Tyrosine Tyr Y Valine Val V

MUTATION CODON CHANGE CLINICAL FEATURES* GEOGRAPHIC KINDREDS MUTATION CODON CHANGE CLINICAL FEATURES* GEOGRAPHIC KINDREDS Cys10Arg Leu12Pro Met13Lys Asp18Glu TGT - CGT CTG - CCG ATG - AAG GAT - GAA, Eye, PN LM PN (PA) UK South America, Glu54Gln Leu55Arg Leu55Gln Leu55Pro GAG - CAG CTG - CGG - CAG, PN LM Eye, PN Romanian Germany, Sweden Asp18Gly - GGT LM Hungary His56Arg - CCG, AN, Eye, Taiwan Asp18Asn - AAT Gly57Arg CAT - CGT Ala19Asp GCT - GAT Caucasian Leu58His GGG - AGG, PN Sweden Val20Ile GTC - ATC, CTS Germany, Leu58Arg CTC - CAC CTS, (MD) (FAP II) Ser23Asn AGT - AAT Thr59Arg - CGC CTS, AN, Eye Pro24Ser CCT - TCT, CTS, PN Thr59Lys ACA - AGA, AN Ala25Ser GCC - TCC, CTS, PN Thr60Ala - AAA, PN, AN Italy, (Chinese) Ala25Thr - ACC LM, PN Glu61Lys ACT - GCT, CTS (Appalachian) Val28Met GTG - ATG PN, AN Portugal Glu61Gly GAG - AAG PN Val30Met - ATG PN, AN, Eye, LM Portugal,, Sweden, (FAP I) Glu62Lys - GGG, PN Val30Ala - GCG, AN Phe64Leu GAG - AAG PN Italy Val30Leu - CTG PN,, Sweden Phe64Ile TTT - CTT/TTG PN, CTS,, Italy Val30Gly - GGG LM, Eye Phe64Ser - ATT Val32Ala - GCG PN, AN, Singapore (Chinese) Gly67Arg - TCT LM, PN, Eye Canada, UK Val32Gly - GGG PN,AN Gly67Glu GGG - AGG Eye, PN Phe33Ile TTC - ATC PN, Eye Israel Ile68Leu GGG - GAG, PN Chinese Phe33Leu - CTC PN, Tyr69His ATA - TTA Germany Phe33Val - GTC PN, Eye UK,, China Tyr69Ile TAC - CAC Eye, LM Canada,, Sweden Phe33Cys - TGC CTS,, Eye, Kidney Lys70Asn - ATC**, CTS, AN Arg34Ser AGA - AGC/T PN, Val71Ala AAA - AAC Eye, CTS, PN Arg34Thr - ACA PN, Italy Ile73Val GTG - GCG PN, Eye, CTS, Spain Arg34Gly - GGA Eye UK (Kosovo) Thr75Ile ATA - GTA PN, AN Bangladesh Lys35Asn AAG - AAC PN, AN, Ser77Tyr ACC - ATC Lys35Thr - ACG Eye Ser77Phe TCT - TAT Kidney (IL, TX), Ala36Pro GCT - CCT Eye, CTS Tyr78Phe - TTT PN, AN, Asp38Ala GAT - GCT PN, Ala81Thr TAC - TTC PN, CTS, Skin Asp38Val - GTT PN, Guiana Ala81Val GCA - ACA Asp39Val GAC - GTC Germany Ile84Ser - GTA Russia, Poland Thr40Asn Germany Ile84Asn ATC - AGC, CTS, Eye (IN), Hungary (FAP II) Trp41Leu TGG - TTG Eye, PN Ile84Thr - AAC, Eye Glu42Gly GAG - GGG PN, AN,,, Russia His88Arg - ACC, PN Germany, UK Glu42Asp - GAT Glu89Gln CAT - CGT Sweden Phe44Ser TTT - TCT PN, AN, Glu89Lys GAG - CAG PN, Italy Phe44Tyr - TAT PN, AN His90Asp - AAG PN, Phe44Leu TTT - CTT Caucasian Ala91Ser CAT - GAT UK Ala45Thr GCC - ACC Glu92Lys GCA - TCA PN, CTS, Ala45Asp - GAC, PN Val93Met GAG - AAG Ala45Ser - TCC Sweden Val94Ala GTG - ATG PN UK Ala45Val - GTC Ala97Gly GTA - GCA, PN, AN, Kidney Germany, Gly47Arg GGG - CGG/AGG PN, AN Ala97Ser GCC - GGC, PN Gly47Ala - GCG, AN Italy, Arg103Ser - TCC PN, Taiwan, Gly47Val - GTG CTS, PN, AN, Sri Lanka Ile107Val CGC - AGC Gly47Glu - GAG, PN, AN Turkey,, Germany Ile107Met ATT - GTT, CTS, PN Thr49Ala ACC - GCC, CTS, Italy Ile107Phe - ATG PN, Germany Thr49Ile - ATC PN,, Spain Ala109Ser - TTT PN, AN UK Thr49Pro - CCC, PN Leu111Met GCC - TCC PN, AN Thr49Ser - AGC PN India Ser112Ile CTG - ATG Denmark Ser50Arg AGT - AGG AN, PN, /Italy, Tyr114Cys AGC - ATC PN, Italy Ser50Ile - ATT, PN, AN Tyr114His TAC - TGC PN, AN, Eye, LM, Glu51Gly GAG - GGG Tyr116Ser - CAC CTS, Skin Ser52Pro TCT - CCT PN, AN,, Kidney UK Ala120Ser TAT - TCT PN, CTS, AN Gly53Glu GGA - GAA LM, Basque, Sweden Ala120Thr GCT - TCT Afro- Caribbean Gly53Ala - GCA PN, An,, Eye, LM UK Val122Ile - ACT PN, CTS Gly53Arg - AGA LM ΔVal122 GTC - ATC Glu54Gly GAG - GGG PN, AN, Eye UK Val122Ala - ΔΔΔ, PN (Ecuador), Spain Glu54Leu Glu54Lys - TTG Belgium - GCC, Eye, PN - AAG PN, AN,, Eye * = CLINICAL FEATURES: AN = Autonomic Neuropathy; CTS = Carpal Tunnel Syndrome; Eye = Vitreous Deposits; LM = Leptomeningeal; PN = Peripheral Neuropathy; ** = Double Nucleotide Substitution

Patients, Families, Amyloid Support Groups Important Facts 1. Need to know type of Amyloidosis: ATTR, AFIB, AAPOA1, AAPOA2, ALYS, AGEL, ALECT2. 2. Need to know mutation. Example: VAL30MET 3. Clinical variations associated with your mutation

Communication