{"id":94,"date":"2004-02-03T23:03:29","date_gmt":"2004-02-04T03:03:29","guid":{"rendered":"https:\/\/www.bumc.bu.edu\/msr\/ttr-database\/ttr-mutations\/"},"modified":"2004-02-03T23:03:29","modified_gmt":"2004-02-04T03:03:29","slug":"ttr-mutations","status":"publish","type":"page","link":"https:\/\/www.bumc.bu.edu\/msr\/ttr-database\/ttr-mutations\/","title":{"rendered":"TTR Mutations"},"content":{"rendered":"

Sequence Mutations of Human Transthyretin<\/strong>
\n(reported through 8\/2\/2001)<\/em><\/strong><\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
\nMutation<\/strong>\n<\/td>\n\nDNA Base Change<\/strong>\n<\/td>\n\nAA Mass Shift, Da<\/strong>\n<\/td>\n\nPhenotype<\/strong>\n<\/td>\n\nGeographic Focus (Ethnic Group)<\/strong>\n<\/td>\n\nReference<\/strong>\n<\/td>\n<\/td>\n<\/tr>\n
\nGly6Ser<\/em><\/strong><\/a>\n<\/td>\n\nGGT –> AGT<\/strong>\n<\/td>\n\n+30<\/strong>\n<\/td>\n\nnon-amyloid<\/strong>\n<\/td>\n\nn.a.<\/strong>\n<\/td>\n\n1991 Fitch et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nCys10Arg<\/strong><\/a>\n<\/td>\n\nTGT –> CGT<\/strong>\n<\/td>\n\n+53<\/strong>\n<\/td>\n\nAN, E, H, PN<\/strong>\n<\/td>\n\nUSA (PA)<\/strong>\n<\/td>\n\n1992 Uemichi et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nLeu12Pro<\/strong><\/a>\n<\/td>\n\nCTG –> CCG<\/strong>\n<\/td>\n\n-16<\/strong>\n<\/td>\n\nL, LM<\/strong>\n<\/td>\n\nUK<\/strong>\n<\/td>\n\n1996 Booth et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAsp18Glu<\/strong><\/a>\n<\/td>\n\nGAT –> GAA\/G<\/strong>\n<\/td>\n\n+14<\/strong>\n<\/td>\n\nPN<\/strong>\n<\/td>\n\nSouth America<\/strong>\n<\/td>\n\n1996 Booth et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAsp18Gly<\/strong><\/a>\n<\/td>\n\nGAT –> GGT<\/strong>\n<\/td>\n\n-58<\/strong>\n<\/td>\n\nLM<\/strong>\n<\/td>\n\nHungary<\/strong>\n<\/td>\n\n1996 Vidal et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nVal20Ile<\/strong><\/a>\n<\/td>\n\nGTC –> ATC<\/strong>\n<\/td>\n\n+14<\/strong>\n<\/td>\n\nCTS, H<\/strong>\n<\/td>\n\nGermany, USA<\/strong>\n<\/td>\n\n1996 Jenne et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nSer23Asn<\/strong><\/a>\n<\/td>\n\nAGT –> AAT<\/strong>\n<\/td>\n\n+27<\/strong>\n<\/td>\n\nE, H, PN<\/strong>\n<\/td>\n\nPortugal, USA<\/strong>\n<\/td>\n\n1999 Theberge et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nPro24Ser<\/strong><\/a>\n<\/td>\n\nCCT –> TCT<\/strong>\n<\/td>\n\n-10<\/strong>\n<\/td>\n\nCTS, H, PN<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n1995 Uemichi et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla25Ser<\/strong><\/a>\n<\/td>\n\nGCC –> TCC<\/strong>\n<\/td>\n\n+16<\/strong>\n<\/td>\n\nH, PN<\/strong>\n<\/td>\n<\/td>\n\n2001 Hamidi et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nVal28Met<\/strong><\/a>\n<\/td>\n\nGTG –> ATG<\/strong>\n<\/td>\n\n+32<\/strong>\n<\/td>\n\nPN<\/strong>\n<\/td>\n\nPortugal<\/strong>\n<\/td>\n\n2000 Carvelho et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nVal30Ala<\/strong><\/a>\n<\/td>\n\nGTG –> GCG <\/strong>\n<\/td>\n\n-28<\/strong>\n<\/td>\n\nAN, H<\/strong>\n<\/td>\n\nUSA (Germany)<\/strong>\n<\/td>\n\n1992 Jones et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nVal30Gly<\/strong><\/a>\n<\/td>\n\nGTG –> GGG<\/strong>\n<\/td>\n\n-42<\/strong>\n<\/td>\n\nE, LM<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n1997 Petersen et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nVal30Leu<\/strong><\/a>\n<\/td>\n\nGTG –> CTG<\/strong>\n<\/td>\n\n+14<\/strong>\n<\/td>\n\nAN, H, K, PN<\/strong>\n<\/td>\n\nJapan, USA<\/strong>\n<\/td>\n\n1992 Nakazato et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nVal30Met<\/strong><\/a>\n<\/td>\n\nGTG –> ATG<\/strong>\n<\/td>\n\n+32<\/strong>\n<\/td>\n\nAN, E, LM, PN<\/strong>\n<\/td>\n\nArgentina, Brazil, China, Finland, France, Germany, Greece, Italy, Japan, Portugal, Sweden,  Turkey, USA<\/strong>\n<\/td>\n\n1983 Dwulet et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nPhe33Cys<\/strong><\/a>\n<\/td>\n\nTTC –> TGC<\/strong>\n<\/td>\n\n-44<\/strong>\n<\/td>\n\nCTS, E, K,  H<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n2001 Lim et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nPhe33Ile<\/strong><\/a>\n<\/td>\n\nTTC –> ATC<\/strong>\n<\/td>\n\n-34<\/strong>\n<\/td>\n\nE, PN<\/strong>\n<\/td>\n\nIsrael<\/strong>\n<\/td>\n\n1984 Nakazato et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nPhe33Leu<\/strong><\/a>\n<\/td>\n\nTTC –> CTC<\/strong>\n<\/td>\n\n-34<\/strong>\n<\/td>\n\nPN<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n1991 Harding et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nPhe33Val<\/strong><\/a>\n<\/td>\n\nTTC –> GTC<\/strong>\n<\/td>\n\n-48<\/strong>\n<\/td>\n\nPN<\/strong>\n<\/td>\n\nChina, UK<\/strong>\n<\/td>\n\n1996 Booth et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nArg34Thr<\/strong><\/a>\n<\/td>\n\nAGA –> ACA<\/strong>\n<\/td>\n\n-55<\/strong>\n<\/td>\n\nH, PN<\/strong>\n<\/td>\n\nItaly<\/strong>\n<\/td>\n\n1996 Patrosso et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nLys35Asn<\/strong><\/a>\n<\/td>\n\nAAG –> AAC\/T<\/strong>\n<\/td>\n\n-14<\/strong>\n<\/td>\n\nAN, H, PN<\/strong>\n<\/td>\n\nFrance<\/strong>\n<\/td>\n\n1995 Reilly et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla36Pro<\/strong><\/a>\n<\/td>\n\nGCT –> CCT<\/strong>\n<\/td>\n\n+26<\/strong>\n<\/td>\n\nCTS, E, PN<\/strong>\n<\/td>\n\nGreece, Italy, <\/strong>
\nJewish, USA<\/strong>\n<\/td>\n		\n1991 Jones et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAsp38Ala<\/strong><\/a>\n<\/td>\n\nGAT –> GCT<\/strong>\n<\/td>\n\n-44<\/strong>\n<\/td>\n\nAN, H, PN<\/strong>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1998 Shimizu et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nTrp41Leu<\/strong><\/a>\n<\/td>\n\nTGG –> TTG<\/strong>\n<\/td>\n\n-73<\/strong>\n<\/td>\n\nE<\/strong>\n<\/td>\n\nUSA (Russia)<\/strong>\n<\/td>\n\n2001 Lim et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGlu42Asp<\/strong><\/a>\n<\/td>\n\nGAG –> GAC\/T<\/strong>\n<\/td>\n\n-14<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nFrance<\/strong>\n<\/td>\n\n1998 Dupuy et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGlu42Gly<\/strong><\/a>\n<\/td>\n\nGAG –> GGG<\/strong>\n<\/td>\n\n-72<\/strong>\n<\/td>\n\nAN, H, PN<\/strong>\n<\/td>\n\nJapan, Russia, USA<\/strong>\n<\/td>\n\n1990 Ueno et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nPhe44Ser<\/strong><\/a>\n<\/td>\n\nTTT –> TCT<\/strong>\n<\/td>\n\n-60<\/strong>\n<\/td>\n\nAN, H, PN<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n1998 Klein et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla45Asp<\/strong><\/a>\n<\/td>\n\nGCC –> GAC<\/strong>\n<\/td>\n\n+44<\/strong>\n<\/td>\n\nH, PN<\/strong>\n<\/td>\n\nIreland, USA<\/strong>\n<\/td>\n\n1993 Jacobson et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla45Ser<\/strong><\/a>\n<\/td>\n\nGCC –> UCC<\/strong>\n<\/td>\n\n+16<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nSweden<\/strong>\n<\/td>\n\n1999 Janunger et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla45Thr<\/strong><\/a>\n<\/td>\n\nGCC –> ACC<\/strong>\n<\/td>\n\n+30<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nIreland, Italy, USA<\/strong>\n<\/td>\n\n1992 Saraiva et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGly47Ala<\/strong><\/a>\n<\/td>\n\nGGG –> GCG<\/strong>\n<\/td>\n\n+14<\/strong>\n<\/td>\n\nAN, H, PN<\/strong>\n<\/td>\n\nGermany, Italy<\/strong>\n<\/td>\n\n1993 Ferlini et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGly47Arg<\/strong><\/a>\n<\/td>\n\nGGG –> CGG<\/strong>\n<\/td>\n\n+99<\/strong>\n<\/td>\n\nAN, PN<\/strong>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1992 Murakami et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGly47Glu<\/strong><\/a>\n<\/td>\n\nGGG –> GAG<\/strong>\n<\/td>\n\n+72<\/strong>\n<\/td>\n<\/td>\n<\/td>\n\n1999 Altland et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGly47Val<\/strong><\/a>\n<\/td>\n\nGGG –> GTG<\/strong>\n<\/td>\n\n+42<\/strong>\n<\/td>\n\nAN, CTS, H, PN<\/strong>\n<\/td>\n\nSri Lanka<\/strong>\n<\/td>\n\n1993 Booth et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nThr49Ala<\/strong><\/a>\n<\/td>\n\nACC –> GCC<\/strong>\n<\/td>\n\n-30<\/strong>\n<\/td>\n\nCTS, H, PN<\/strong>\n<\/td>\n\nFrance, Italy<\/strong>\n<\/td>\n\n1992 Almeida et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nThr49Ile<\/strong><\/a>\n<\/td>\n\nACC –> ATC<\/strong>\n<\/td>\n\n+12<\/strong>\n<\/td>\n\nH, PN<\/strong>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1999 Nakamura et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nSer50Arg<\/strong><\/a>\n<\/td>\n\nAGT –> AGG?<\/strong>\n<\/td>\n\n+69<\/strong>\n<\/td>\n\nAN, H, PN<\/strong>\n<\/td>\n\nFrance\/Italy, Japan<\/strong>\n<\/td>\n\n1990 Ueno et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nSer50Ile<\/strong><\/a>\n<\/td>\n\nAGT –> ATT<\/strong>\n<\/td>\n\n+26<\/strong>\n<\/td>\n\nAN, H, PN<\/strong>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1992 Saeki et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGlu51Gly<\/strong><\/a>\n<\/td>\n\nGAG –> GGG<\/strong>\n<\/td>\n\n-72<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n1999 Jacobson et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nSer52Pro<\/strong><\/a>\n<\/td>\n\nTCT –> CCT<\/strong>\n<\/td>\n\n+10<\/strong>\n<\/td>\n\nAN, H, K, PN<\/strong>\n<\/td>\n\nEngland<\/strong>\n<\/td>\n\n1993 Booth et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGly53Glu<\/strong><\/a>\n<\/td>\n\nGGA –> GAA<\/strong>\n<\/td>\n\n+72<\/strong>\n<\/td>\n\nLM,N<\/strong>\n<\/td>\n\nFrance<\/strong>\n<\/td>\n\n1999 Camou et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGlu54Gln<\/strong><\/a>\n<\/td>\n\nGAG –> CAG<\/strong>\n<\/td>\n\n-1<\/strong>\n<\/td>\n<\/td>\n<\/td>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGlu54Gly<\/strong><\/a>\n<\/td>\n\nGAG –> GGG<\/strong>\n<\/td>\n\n-72<\/strong>\n<\/td>\n\nAN, E, PN<\/strong>\n<\/td>\n\nEngland<\/strong>\n<\/td>\n\n1995 Reilly et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGlu54Lys<\/strong><\/a>\n<\/td>\n\nGAG –> AAG<\/strong>\n<\/td>\n\n-1<\/strong>\n<\/td>\n\nPN<\/strong>\n<\/td>\n<\/td>\n\n1999 Togashi et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nLeu55Arg<\/strong><\/a>\n<\/td>\n\nCTG –> CGG<\/strong>\n<\/td>\n\n+43<\/strong>\n<\/td>\n<\/td>\n<\/td>\n\n1999 Altland et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nLeu55Pro<\/strong><\/a>\n<\/td>\n\nCTG –> CCG<\/strong>\n<\/td>\n\n-16<\/strong>\n<\/td>\n\nAN, E, H, PN<\/strong>\n<\/td>\n\nTaiwan, USA <\/strong>
\n(Dutch, German)<\/strong>\n<\/td>\n		\n1992 Jacobson et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nLeu58Arg<\/strong><\/a>\n<\/td>\n\nCTC –> CGC<\/strong>\n<\/td>\n\n+43<\/strong>\n<\/td>\n\nAN, CTS, E, H<\/strong>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1991 Saeki et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nLeu58His<\/strong><\/a>\n<\/td>\n\nCTC –> CAC<\/strong>\n<\/td>\n\n+24<\/strong>\n<\/td>\n\nCTS, H<\/strong>\n<\/td>\n\nGermany, USA (MD)<\/strong>\n<\/td>\n\n1989 Nichols et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nThr59Lys<\/strong><\/a>\n<\/td>\n\nACA –> AAA<\/strong>\n<\/td>\n\n+27<\/strong>\n<\/td>\n\nAN, H, PN<\/strong>\n<\/td>\n\nItaly, USA (Asian)<\/strong>\n<\/td>\n\n1995 Booth et al.<\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nThr60Ala<\/strong><\/a>\n<\/td>\n\nACT –> GCT<\/strong>\n<\/td>\n\n-30<\/strong>\n<\/td>\n\nCTS, H, PN<\/strong>\n<\/td>\n\n Australia, Germany, Ireland, UK, USA<\/strong>\n<\/td>\n\n1986 Wallace et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGlu61Lys<\/strong><\/a>\n<\/td>\n\nGAG –> AAG<\/strong>\n<\/td>\n\n-1<\/strong>\n<\/td>\n\nPN<\/strong>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1993 Shiomi et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nPhe64Leu<\/strong><\/a>\n<\/td>\n\nTTT –> CTT<\/strong>\n<\/td>\n\n-34<\/strong>\n<\/td>\n\nCTS, H, PN<\/strong>\n<\/td>\n\nItaly, USA<\/strong>\n<\/td>\n\n1991 Li et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nPhe64Ser<\/strong><\/a>\n<\/td>\n\nTTT –> TCT<\/strong>\n<\/td>\n\n-60<\/strong>\n<\/td>\n\nE, LM, PN<\/strong>\n<\/td>\n\nCanada, England<\/strong>\n<\/td>\n\n1999 Connors et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nIle68Leu<\/strong><\/a>\n<\/td>\n\nATA –> TTA<\/strong>\n<\/td>\n\n0<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nGermany, USA<\/strong>\n<\/td>\n\n1991 Almeida et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nTyr69His<\/strong><\/a>\n<\/td>\n\nTAC –> CAC<\/strong>\n<\/td>\n\n-26<\/strong>\n<\/td>\n\nE<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n1994 Zeldenrust et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nLys70Asn<\/strong><\/a>\n<\/td>\n\nAAA –> AAC<\/strong>\n<\/td>\n\n-14<\/strong>\n<\/td>\n\nCTS, E, PN<\/strong>\n<\/td>\n\nGermany, USA<\/strong>\n<\/td>\n\n1992 Izumoto et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nVal71Ala<\/strong><\/a>\n<\/td>\n\nGTC –> GCG<\/strong>\n<\/td>\n\n-28<\/strong>\n<\/td>\n\nCTS, E, PN<\/strong>\n<\/td>\n\nFrance, Spain<\/strong>\n<\/td>\n\n1993 Almeida et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nIle73Val<\/strong><\/a>\n<\/td>\n\nATA –> GTA<\/strong>\n<\/td>\n\n-14<\/strong>\n<\/td>\n\nAN, PN<\/strong>\n<\/td>\n\nBangladesh<\/strong>\n<\/td>\n\n1998 Booth et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAsp74His<\/em><\/strong><\/a>\n<\/td>\n\nGAC –> CAC<\/strong>\n<\/td>\n\n+22<\/strong>\n<\/td>\n\nnon-amyloid?<\/strong>\n<\/td>\n\nGermany<\/strong>\n<\/td>\n\n1994 Uemichi et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nSer77Phe<\/strong><\/a>\n<\/td>\n\nTCT –> TTT<\/strong>\n<\/td>\n\n+60<\/strong>\n<\/td>\n\nAN, PN<\/strong>\n<\/td>\n\nFrance<\/strong>\n<\/td>\n\n1998 Plante-Bordeneuve et al<\/em>.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nSer77Tyr<\/strong><\/a>\n<\/td>\n\nTCT –> TAT<\/strong>\n<\/td>\n\n+76<\/strong>\n<\/td>\n\nH, K, PN<\/strong>\n<\/td>\n\nFrance, Germany, USA (IL,TX) <\/strong>\n<\/td>\n\n1986 Wallace et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nIle84Asn<\/strong><\/a>\n<\/td>\n\nATC –> AAC<\/strong>\n<\/td>\n\n+1<\/strong>\n<\/td>\n\nCTS, E, H<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n1992 Skinner et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nIle84Ser<\/strong><\/a>\n<\/td>\n\nATC –> AGC<\/strong>\n<\/td>\n\n-26<\/strong>\n<\/td>\n\nCTS, E, H, LM<\/strong>\n<\/td>\n\nHungary, Swiss, USA (IN)<\/strong>\n<\/td>\n\n1984 Dwulet et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nIle84Thr<\/strong><\/a>\n<\/td>\n\nATC –> ACC<\/strong>\n<\/td>\n\n-12<\/strong>\n<\/td>\n\nH, PN<\/strong>\n<\/td>\n\nGermany, UK<\/strong>\n<\/td>\n\n1998 Stangou et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGlu89Gln<\/strong><\/a>\n<\/td>\n\nGAG –> CAG<\/strong>\n<\/td>\n\n-1<\/strong>\n<\/td>\n\nCTS, H, PN<\/strong>\n<\/td>\n\nItaly<\/strong>\n<\/td>\n\n1992 Aklmeida et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGlu89Lys<\/strong><\/a>\n<\/td>\n\nGAG –> AAG<\/strong>\n<\/td>\n\n-1<\/strong>\n<\/td>\n\nAN, H, PN<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n1989 Skare et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nHis90Asn<\/em><\/strong><\/a>\n<\/td>\n\nCAT –> AAT<\/strong>\n<\/td>\n\n-23<\/strong>\n<\/td>\n\nnon-amyloid<\/strong>\n<\/td>\n\n Germany, Portugal<\/strong>\n<\/td>\n\n1991 Saraiva et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla91Ser<\/strong><\/a>\n<\/td>\n\nGCA –> TCA<\/strong>\n<\/td>\n\n+16<\/strong>\n<\/td>\n\nAN, CTS, H, PN<\/strong>\n<\/td>\n\nFrance<\/strong>\n<\/td>\n\n1989 Skare et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGln92Lys<\/strong><\/a>\n<\/td>\n\nGAG –> AAG<\/strong>\n<\/td>\n\n0<\/strong>\n<\/td>\n\nC<\/strong>\n<\/td>\n<\/td>\n\n2001 Saito et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla97Gly<\/strong><\/a>\n<\/td>\n\nGCC –> GGC<\/strong>\n<\/td>\n\n-14<\/strong>\n<\/td>\n\nH, PN<\/strong>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1994 Yasuda et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla97Ser<\/strong><\/a>\n<\/td>\n\nGCC –> TCC<\/strong>\n<\/td>\n\n+16<\/strong>\n<\/td>\n<\/td>\n\nChina, Taiwan<\/strong>\n<\/td>\n\n1989 Skare et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nGly101Ser<\/em><\/strong><\/a>\n<\/td>\n\nGGC –> AGC<\/strong>\n<\/td>\n\n+30<\/strong>\n<\/td>\n\nnon-amyloid<\/strong>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1998 Kishikawa et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nPro102Arg<\/em><\/strong><\/a>\n<\/td>\n\nCCC –> CGC<\/strong>\n<\/td>\n\n+59<\/strong>\n<\/td>\n\nnon-amyloid<\/strong>\n<\/td>\n\nGermany<\/strong>\n<\/td>\n\n1991 Almeida et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nArg104Cys<\/em><\/strong><\/a>\n<\/td>\n\nCGC –> TGC<\/strong>\n<\/td>\n\n-53<\/strong>\n<\/td>\n\nnon-amyloid, N<\/strong>\n<\/td>\n<\/td>\n\n1995 Torres et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nArg104His<\/em><\/strong><\/a>\n<\/td>\n\nCGC –> CAC<\/strong>\n<\/td>\n\n-19<\/strong>\n<\/td>\n\nnon-amyloid<\/strong>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1999 Matasunaga et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
Ile107Val<\/strong><\/a><\/td>\n\nATT –> GTT<\/strong>\n<\/td>\n\n-14<\/strong>\n<\/td>\n\nCTS, H, PN<\/strong>\n<\/td>\n\nGermany, USA<\/strong>\n<\/td>\n\n1994 Jacobson et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla109Ser<\/strong><\/a>\n<\/td>\n\nGCC –> TCC<\/strong>\n<\/td>\n\n+16<\/strong>\n<\/td>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1997 Date et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla109Thr<\/em><\/strong><\/a>\n<\/td>\n\nGCC –> ACC<\/strong>\n<\/td>\n\n+30<\/strong>\n<\/td>\n\nnon-amyloid<\/strong>\n<\/td>\n\nPortugal<\/strong>\n<\/td>\n\n1990 Moses et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla109Val<\/em><\/strong><\/a>\n<\/td>\n\nGCC –> GTC<\/strong>\n<\/td>\n\n+28<\/strong>\n<\/td>\n\nnon-amyloid<\/strong>\n<\/td>\n<\/td>\n\n1993 Izumoto et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nLeu111Met<\/strong><\/a>\n<\/td>\n\nCTG –> ATG<\/strong>\n<\/td>\n\n+18<\/strong>\n<\/td>\n\nCTS, H<\/strong>\n<\/td>\n\nDenmark<\/strong>\n<\/td>\n\n1988 Nordlie et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nSer112Ile<\/strong><\/a>\n<\/td>\n\nAGC –> ATC<\/strong>\n<\/td>\n\n+26<\/strong>\n<\/td>\n\nH, PN<\/strong>\n<\/td>\n\nItaly<\/strong>\n<\/td>\n\n1993 De Lucia et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nTyr114Cys<\/strong><\/a>\n<\/td>\n\nTAC –> TGC<\/strong>\n<\/td>\n\n-60<\/strong>\n<\/td>\n\nAN, E, H, LM, PN<\/strong>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1990 Ueno et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nTyr114His<\/strong><\/a>\n<\/td>\n\nTAC –> CAC<\/strong>\n<\/td>\n\n-26<\/strong>\n<\/td>\n\nCTS<\/strong>\n<\/td>\n\nJapan<\/strong>\n<\/td>\n\n1994 Murakami et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nTyr116Ser<\/strong><\/a>\n<\/td>\n\nTAT –> TCT<\/strong>\n<\/td>\n\n-76<\/strong>\n<\/td>\n\nAN, PN<\/strong>\n<\/td>\n\nFrance<\/strong>\n<\/td>\n\n1998 Mirashi et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\n**Thr118Met<\/em><\/strong><\/a>\n<\/td>\n\nACG –> ATG<\/strong>\n<\/td>\n\n+30<\/strong>\n<\/td>\n<\/td>\n<\/td>\n\n1997 Nelis et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nThr119Met<\/em><\/strong><\/a>\n<\/td>\n\nACG –> ATG<\/strong>\n<\/td>\n\n+30<\/strong>\n<\/td>\n\nnon-amyloid<\/strong>\n<\/td>\n\nPortugal, USA<\/strong>\n<\/td>\n\n1991 Harrison et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla120Ser<\/strong><\/a>\n<\/td>\n\nGCT –> TCT<\/strong>\n<\/td>\n\n+16<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nCaribbean<\/strong>\n<\/td>\n\n1999 Gillmore et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nLoss of Val122<\/strong><\/a>\n<\/td>\n\nGTC loss <\/strong>\n<\/td>\n\n-99<\/strong>\n<\/td>\n\nH, PN<\/strong>\n<\/td>\n\nUSA (Ecuador\/ Spain)<\/strong>\n<\/td>\n\n1996 Uemichi et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nVal122Ala<\/strong><\/a>\n<\/td>\n\nGTC –> GCC<\/strong>\n<\/td>\n\n-28<\/strong>\n<\/td>\n\nE, H, PN<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n1999 Theberge et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nVal122Ile<\/strong><\/a>\n<\/td>\n\nGTC –> ATC<\/strong>\n<\/td>\n\n+14<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nAfrica, Portugal, USA <\/strong>\n<\/td>\n\n1989 Gorevic et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nPro125Ser<\/em><\/strong><\/a>\n<\/td>\n\nCCC –> TCC<\/strong>\n<\/td>\n\n-10<\/strong>\n<\/td>\n\nnon-amyloid<\/strong>\n<\/td>\n\nItaly<\/strong>\n<\/td>\n\n1996 Ferlini et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nMet13lle*<\/em><\/strong><\/a>\n<\/td>\n\nATG –> ATC<\/strong>\n<\/td>\n\n-18<\/strong>\n<\/td>\n\nnon-amyloid<\/strong>\n<\/td>\n\nGermany<\/strong>\n<\/td>\n\n1999 Altland et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAsp18Asn<\/em><\/strong><\/a>\n<\/td>\n\nGAT –> AAT<\/strong>\n<\/td>\n\n-1<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n2001 Connors et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla25Ser<\/em><\/strong><\/a>\n<\/td>\n\nGCC –> TCC<\/strong>\n<\/td>\n\n+16<\/strong>\n<\/td>\n\nH, PN<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n2002 Yazaki et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nAla25Thr<\/em><\/strong><\/a>\n<\/td>\n\nGCC –> ACC<\/strong>\n<\/td>\n\n+30<\/strong>\n<\/td>\n\nCNS, PN<\/strong>\n<\/td>\n\nJAPAN<\/strong>\n<\/td>\n\n2003 Sekijima et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nVal28Met<\/em><\/strong> <\/a>\n<\/td>\n\nGTG –> ATG<\/strong>\n<\/td>\n\n+32<\/strong>\n<\/td>\n\nAN, PN<\/strong>\n<\/td>\n\nPORTUGAL<\/strong>\n<\/td>\n\n2000 Carvelho et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nPhe33Cys<\/em><\/strong> <\/a>\n<\/td>\n\nTTC –> TGC<\/strong>\n<\/td>\n\n-44<\/strong>\n<\/td>\n\nCTS, E, K, H<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n2001 Lim et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nTrp41Leu<\/em><\/strong> <\/a>\n<\/td>\n\nTGG –> TTG<\/strong>\n<\/td>\n\n-73<\/strong>\n<\/td>\n\nE<\/strong>\n<\/td>\n\nUSA (Russian)<\/strong>\n<\/td>\n\n2001 Lim et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nThr49Pro<\/em><\/strong> <\/a>\n<\/td>\n\nACC –> CCC<\/strong>\n<\/td>\n\n-4<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n2002 Lim et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nLeu55Gln<\/em><\/strong> <\/a>\n<\/td>\n\nCTG –> CAG<\/strong>\n<\/td>\n\n+15<\/strong>\n<\/td>\n\nAN, E, PN<\/strong>\n<\/td>\n\nUSA (Spanish)<\/strong>\n<\/td>\n\n2002 Yazaki et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nHis56Arg<\/em><\/strong> <\/a>\n<\/td>\n\nCAT –> AAT<\/strong>\n<\/td>\n\n+19<\/strong>\n<\/td>\n\nH<\/strong>\n<\/td>\n\nUSA<\/strong>\n<\/td>\n\n1999 Jacobsan et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n
\nTyr69Ile<\/em><\/strong> <\/a>\n<\/td>\n\nTAC –> ATC<\/strong>\n<\/td>\n\n-50<\/strong>\n<\/td>\n\nCTS, H<\/strong>\n<\/td>\n\nJAPAN<\/strong>\n<\/td>\n\n2003 Takei et al.<\/em><\/strong>\n<\/td>\nReferences<\/a><\/td>\n<\/tr>\n<\/table>\n\n\n
Abbreviation Key: Da = 1 mass unit (u); AN = autonomic neuropathy; CTS = carpal tunnel syndrome; E = eye; H = heart; K = kidney; L = liver; LM = leptomeningeal; N = neuropathy; PN = polyneuropathy<\/strong><\/td>\n<\/tr>\n<\/table>\n","protected":false},"excerpt":{"rendered":"

Sequence Mutations of Human Transthyretin (reported through 8\/2\/2001) Mutation DNA Base Change AA Mass Shift, Da Phenotype Geographic Focus (Ethnic Group) Reference Gly6Ser GGT –> AGT +30 non-amyloid n.a. 1991 Fitch et al. References Cys10Arg TGT –> CGT +53 AN, E, H, PN USA (PA) 1992 Uemichi et al. References Leu12Pro CTG –> CCG -16 […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":90,"menu_order":4,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/pages\/94"}],"collection":[{"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/comments?post=94"}],"version-history":[{"count":0,"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/pages\/94\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/pages\/90"}],"wp:attachment":[{"href":"https:\/\/www.bumc.bu.edu\/msr\/wp-json\/wp\/v2\/media?parent=94"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}