Nomenclature What is in a name? My name Joseˊ Jimenez = Bill Dana John L.C. Savony = Frank Fontaine
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2 Nomenclature What is in a name? My name Joseˊ Jimenez = Bill Dana John L.C. Savony = Frank Fontaine
3 Three categories of Amyloid Terms 1. Amyloidologists, Amyloid Centers, Researchers official nomenclature 2. Medical personnel, Physicians, Nurses, Counselors 3. Patients and Families
4 Amyloidologists, Amyloid Centers, Researchers Nomenclature Committee meets biannually
5 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)
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7 Physicians, Nurses, Counselors FAP FAC ATTRm ATTRwt httrpn HFpEF
8 More confusion! Amyloid protein designation vs. Genetics designation V30M = V50M I107 V = I 127 V
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10 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
11 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
12 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
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