Name (Protein Variant incl. 20-aa signal peptide) |
Sequence Variant (mRNA) |
Codon Change |
Location |
Reported Phenotype |
Ethnic Group |
References |
Gly6Ser (p.Gly26Ser) | c.76G>A | GGT>AGT | Exon 2 | non-amyloidogenic | Caucasian | Jacobson (1994) Hum Mutat 3, 254 |
Cys10Arg (p.Cys30Arg) | c.88T>C | TGT>CGT | Exon 2 | AN, E, H, PN | American (Hungarian) | Uemichi (1992) J Med Genet 29, 888 |
Leu12Pro (p.Leu32Pro) | c.95T>C | CTG>CCG | Exon 2 | PN, AN, H, LM, L | British | Brett (1999) Brain 122, 183 |
Leu12Val (p.Leu32Val) | c.94C>G | CTG>GTG | Exon 2 | PN, H, CTS | German, Hispanic | Hinderhofer (2019) Amyloid 10:1-9. doi: 10.1080/13506129.2019.1598358 |
p.Met13Ile (p.Met33Ile) | c.99G>C | ATG>ATC | Exon 2 | non-amyloidogenic | German | Altland (1999) The 4th International Symposium on FAP and Other TTR Related Disorders. |
Asp18Asn (p.Asp38Asn) | c.112G>A | GAT>AAT | Exon 2 | H | American | Connors (2003) Amyloid 10, 160 |
Asp18Gly (p.Asp38Gly) | c.113A>G | GAT>GGT | Exon 2 | LM | Hungarian | Vidal (1996) Am J Pathol 148, 361 |
Asp18Glu (p.Asp38Glu) | c.114T>A or G | GAT> GAA/G | Exon 2 | PN | South American | Connors (2004) Amyloid 11, 61 |
Ala19Asp (p. Ala39Asp) | c.116C>A | GCT >GAT | Exon 2 | H | Caucasian | Ferreira (2013) PLoS One; 8(12):e82484 |
Val20Ile (p.Val40Ile) | c.118G>A | GTC>ATC | Exon 2 | CTS, H | German, American | Jenne (1996) Proc Natl Acad Sci U S A 93, 6302 |
Arg21Gln (p.Arg41Gln) | c.122G>A | CGA>CAA | Exon 2 | H, N | French | S. Valleix. Personal communication. |
Ser23Asn (p.Ser43Asn) | c.128G>A | AGT >AAT | Exon 2 | E, H, PN | Portuguese, American | Connors (1999) Amyloid 6, 114 |
Pro24Ser (p.Pro44Ser) | c.130C>T | CCT >TCT | Exon 2 | CTS, H, PN | American | Uemichi (1995) J Med Genet 32, 279 |
Ala25Ser (p.Ala45Ser) | c.133G>T | GCC>TCC | Exon 2 | H, PN | American | Yazatic (2002) Muscle Nerve 25, 244 |
Ala25Thr (p.Ala45Thr) | c.133G>A | GCC>ACC | Exon 2 | CNS, PN | Japanese | Sekijima (2003) Lab Invest 83, 409 |
Val28Met (p.Val48Met) | c.142G>A | GTG>ATG | Exon 2 | PN | Portuguese | Carvalho (2000) Muscle Nerve 23, 1016 |
Val28 Ser (p.Val48Ser) | c.142_143 GT>TC | GTG>TCG | Exon 2 | AN, PN, H | Chinese | Okada M 2017, A novel transthyretin variant V28S |
Val30Leu (p.Val50Leu) | c.148G>C | GTG>CTG | Exon 2 | AN, H, K, PN | Japanese, American | Murakami (1992) Biochem Biophys Res Commun 187, 397 |
Val30Met (p.Val50Met) | c.148G>A | GTG>ATG | Exon 2 | AN, E, LM, PN | American Chinese, Japanese, European | Saraiva (1984) J Clin Invest 74, 104 |
Val30Ala (p.Val50Ala) | c.149T>C | GTG>GCG | Exon 2 | AN, H | American (German) | Jones (1992) Clin Genet 41, 70 |
Val30Gly (p.Val50Gly) | c.149T>G | GTG>GGG | Exon 2 | CNS, E, LM | American | Peterson (1997) Ann Neurol 41, 307 |
Val30Leu (p.Val50Leu) | c.148G>C | GTG>TTG | Exon 2 | AN, H, PN | Finish | Suhr (2016) XVth International Symposium on Amyloidosis |
Val32Ala (p.Val52Ala) | c.155T>C | GTG>GCG | Exon 2 | AN, H, PN | Chinese | Pica (2005) Muscle Nerve 32, 223 |
Val32Gly (p.Val52Gly) | c.155T>G | GTG>GGG | Exon 2 | AN, PN | French | Plante-Bordeneuve (2003) J Med Genet 40, e120 |
Phe33Ile (p.Phe53Ile) | c.157T>A | TTC>ATC | Exon 2 | E, PN | Jewish | Jacobson (1988) Biochem Biophys Res Commun 153(1):198 |
Phe33Leu (p.Phe53Leu) | c.157T>C | TTC>CTC | Exon 2 | PN, C, AN | American, Polish | Li (1991) Neurology 41:893;
Suhr (2016) XVth International Symposium on Amyloidosis
|
Phe33Val (p.Phe53Val) | c.157T>G | TTC>GTC | Exon 2 | PN | Chinese, British | Tachibana (1999) Amyloid 6(4):282 |
Phe33Cys (p.Phe53Cys) | c.158T>G | TTC>TGC | Exon 2 | CTS, E, K,A H | American | Connors (2003) Amyloid 10, 160 |
Arg34Gly (p.Arg54Gly) | c.160A>G | AGA>GGA | Exon 2 | E | Kosovo | Levy J, Hawkins PN, Rowczenio D, Godfrey T, Stawell R, Zamir E. |
Arg34Ser (p. Arg54Ser) | c.162A>C | AGA>AGC | Exon 2 | H, PN | Polish-Italian | Zivkovic, Personal Communication (2019) |
Arg34Thr (p.Arg54Thr) | c.161G>C | AGA > ACA | Exon 2 | H, PN | Italian | Patrosso (1998) Am J Med Genet 77, 135 |
Lys35Asn (p.Lys55Asn) | c.165G>C or T | AAG>AAC/T | Exon 2 | AN, H, PN | French | Reilly (1995) Brain 118, 849 |
Lys35Thr (p.Lys55Thr) | c.164A>C | AAG>ACG | Exon 2 | E | Chinese | Long (2012) Ophthalmic Genet 33(1):28-33 |
Ala36Asp (p.Ala56Asp) | c.167C>A | GCT>GAT | Exon 2 | H, PN | Japanese | Nomura (2016) XVth International Symposium on Amyloidosis |
Ala36Pro (p.Ala56Pro) | c.166G>C | GCT>CCT | Exon 2 | CTS, E, PN | Greek, Italian, Jewish, American | Jones (1991) Am J Hum Genet 48, 979 |
Asp38Ala (p.Asp58Ala) | c.173A>C | GAT>GCT | Exon 2 | AN, H, PN | Japanese | Yazaki (2000), Biochem Biophys Res Commun, 274(3):702 |
Asp38Val (p.Asp58Val) | c.173A>T | GAT>GTT | Exon 2 | H, PN | Guianese | Lachmann (2002) N Engl J Med 346, 1786 |
Asp39Val (p.Asn59Val) | c.176A>T | GAC>GTC | Exon 2 | H | German | Eriksson (2009) Am J Surg Pathol 33 (1):58 |
Thr40Asn (p.Thr60Asn) | c.179C>A | ACC>AAC | Exon 2 | H, AN, PN | German | Hinderhofer (2019) Amyloid 10:1-9. doi: 10.1080/13506129.2019.1598358 |
Trp41Leu (p.Trp61Leu) | c.182G>T | TGG>TTG | Exon 2 | E | American (Russian) | Yazaki (2002) Amyloid 9, 263 |
Glu42Gly (p.Glu62Gly) | c.185A>G | GAG>GGG | Exon 2 | AN, H, PN | Japanese, Russian, American | Ueno (1990) Biochem Biophys Res Commun 169, 1117 |
Glu42Asp (p.Glu62Asp) | c.186G>C or T | GAG>GAC/T | Exon 2 | H | French | Dupuy (1998) Amyloid 5, 285 |
Phe44Tyr (p.Phe64Tyr) | c.191T>A | TTT>TAT | Exon 2 | AN, PN | French | Plante-Bordeneuve (2003) J Med Genet 40, e120 |
Phe44Ser (p.Phe64Ser) | c.191T>C | TTT>TCT | Exon 2 | AN, H, PN | American | Klein (1998) Neurology 51, 1462 |
Phe44Leu (p.Phe64Leu) | c.190T>C | TTT>CTT | Exon 2 | H | Caucasian | Unpublished |
Ala45Ser (p.Ala65Ser) | c.193G>T | GCC>TCC | Exon 2 | H | Swedish | Janunger (2000) Amyloid 7, 137 |
Ala45Thr (p.Ala65Thr) | c.193G>A | GCC >ACC | Exon 2 | H | Irish, Italian, American | Saraiva (1992) Am J Hum Genet 50, 1027 |
Ala45Asp (p.Ala65Asp) | c.194C>A | GCC >GAC | Exon 2 | H, PN | Irish, American | Saraiva (1995) Hum Mutat 5, 191 |
Ala45Gly (p.Ala65Gly) | c.194C>G | GCC>GGC | Exon 2 | H | Dutch | Klaassen (2017) Cardiovasc Pathol. 29:19-22 |
Gly47Arg (p.Gly67Arg) | c.199G>C | GGG>CGG | Exon 2 | AN, PN | Japanese | Murakami (1992) Biochem Biophys Res Commun 182, 520 |
Gly47Arg (p.Gly67Arg) | c.199G>A | GGG>AGG | Exon 2 | H, PN | Italian | Ferlini (2000) Clin Genet 57, 284 |
Gly47Ala (p.Gly67Ala) | c.200G>C | GGG>GCG | Exon 2 | AN, H, PN | German, Italian, French | Ferlini (1994) Hum Mutat 4, 61 |
Gly47Glu (p.Gly67Glu) | c.200G>A | GGG>GAG | Exon 2 | H, K, PN | German, Italian | Pelo (2002) Amyloid 9, 35 |
Gly47Val (p.Gly67Val) | c.200G>T | GGG>GTG | Exon 2 | AN, CTS, H, PN | Sri Lankan | Booth (1993) Amyloid, 456 |
Thr49Ala (p.Thr69Ala) | c.205A>G | ACC>GCC | Exon 3 | CTS, H, PN | Italian, French | Almeida (1992) Hum Mutat 1, 211 |
Thr49Pro (p.Thr69Pro) | c.205A>C | ACC>CCC | Exon 3 | H, LM | American | Nakagawa (2008) J Neurol , 272(1-2):186; Connors (2003) Amyloid 10, 160; |
Thr49Ile (p.Thr69Ile) | c.206C>T | ACC>ATC | Exon 3 | H, PN | Japanese | Nakamura (1999) Hum Hered 49, 186 |
Thr49Ser (p.Thr69Ser) | c.206C>G | ACC>AGC | Exon 3 | PN | Indian | Rowczenio (2019) Human Mutation.Jan;40(1):90-96 |
Ser50Arg (p.Ser70Arg) | c.210T>A | AGT>AGA | Exon 3 | H, PN | Mexican | Dasgupta (2016) XVth International Symposium on Amyloidosis |
Ser50Arg (p.Ser70Arg) | c.210T>G | AGT>AGG | Exon 3 | AN, H, PN | Italian, French, Japanese | Ueno (1990) Biochem Biophys Res Commun 169, 1117 |
Ser50Ile (p.Ser70Ile) | c.209G>T | AGT>ATT | Exon 3 | AN, H, PN | Japanese, Spanish | Saeki (1992) FEBS Lett 308, 35 |
Glu51Gly (p.Glu71Gly) | c.212A>G | GAG>GGG | Exon 3 | H | American | Connors (2003) Amyloid 10, 160 |
Glu51_Ser52dup (p.Glu71_Ser72dup) | c.212_217 dupAGTCTG
| Frame shifting insertion | Exon 3 | PN, AN, H | African- American | Klimtchuk ES (2018) |
Ser52Pro (p.Ser72Pro) | c.214T>C | TCT>CCT | Exon 3 | AN, H, K, PN | British | Stangou (1998) Transplantation 66(2):229 |
Gly53Arg (p.Gly73Arg) | c.217G>A | GGA>AGA | Exon 3 | LM | American | Liepnieks (2011) Amyloid 18; 1:162 |
Gly53Glu (p.Gly73Glu) | c.218G>A | GGA>GAA | Exon 3 | CNS, LM, N | French | Ellie (2001) Neurology 57, 135 |
Gly53Ala (p.Gly73Ala) | c.218G>C | GGA>GCA | Exon 3 | AN, E, H, PN, LM | British | Douglass (2007) J Neurol Neurosurg Psychiatry 78, 193 |
Glu54Leu (p.Glu74Leu) | c.220_221 GA>TT | GAG>TTG | Exon 3 | H | Belgian | Rowczenio (2019) Human Mutation.Jan;40(1):90-96 |
Glu54Lys (p.Glu74Lys) | c.220G>A | GAG>AAG | Exon 3 | AN, H, PN | Japanese | Togashi (1999) Neurology 53, 637 |
Glu54Gly (p.Glu74Gly) | c.221A>G | GAG>GGG | Exon 3 | AN, E, PN | British | Reilly (1995) Brain 118, 849 |
Glu54Asp (p.Glu74Asp) | c.222G>T | GAG>GAC | Exon 3 | Not listed | German | Eriksson (2009) Am J Surg Pathol 33 (1):58 |
Glu54Gln (p.Glu74Gln) | c.220G>C | GAG>CAG | Exon 3 | H, PN | Romanian | Coriu D, XIII International Symposium on Amyloisosis |
Leu55Gln (p.Leu75Gln) | c.224T>A | CTG>CAG | Exon 3 | AN, E, PN | American (Spanish) | Yazaki (2002) Amyloid 9, 268 |
Leu55Arg (p.Leu75Arg) | c.224T>G | CTG>CGG | Exon 3 | LM, PN, E | Chinese, German | Long (2012) Ophthalmic Genet 33(1):28-33
Connors (2003) Amyloid 10, 160 |
Leu55Pro (p.Leu75Pro) | c.224T>C | CTG>CCG | Exon 3 | AN, E, H, PN | Taiwanese, American (Dutch, German) | Jacobson (1992) Hum Genet 89, 353 |
His56Arg (p.His76Arg) | c.227A>G | CAT>CGT | Exon 3 | H | American | Jacobson (1999) TTR Locus-specific database Unpublished |
Gly57Arg (p.Gly77Arg) | c.229G>A | GGG>AGG | Exon 3 | H | Swedish | Suhr (2009) Amyloid 16(4):208-14. |
Leu58Arg (p.Leu78Arg) | c.233T>G | CTC>CGC | Exon 3 | AN, CTS, E, H | Japanese | Saeki (1991) Biochem Biophys Res Commun 180, 380 |
Leu58His (p.Leu78His) | c.233T>A | CTC>CAC | Exon 3 | CTS, H | German, American (MD) | Nichols (1989) Genomics 5, 535 |
Thr59Arg (p.Thr79Arg) | c.236C>G | ACA>AGA | Exon 3 | H | Japanese | Watanabe (2016) XVth International Symposium on Amyloidosis |
Thr59Lys (p.Thr79Lys) | c.236C>A | ACA>AAA | Exon 3 | AN, H, PN | Italian, American (Asian) | Saraiva (1995) Hum Mutat 5, 191 |
Thr60Ala (p.Thr80Ala) | c.238A>G | ACT>GCT | Exon 3 | CTS, H, PN | Australian, German, Irish, British, American | Wallace (1986) J Clin Invest 78, 6 |
Thr60Ile (p.Thr80Ile) | c.239C>T | ACT>ATT | Exon 3 | H, PN, E | Caucasian | Personal communication from Dr Barry Trachtenberg |
Glu61Lys (p.Glu81Lys) | c.241G>A | GAG>AAG | Exon 3 | PN | Japanese | Shiomi (1993) Biochem Biophys Res Commun 194, 1090 |
Glu61Gly (p.Glu81Gly) | c.242A>G | GAG>GGG | Exon 3 | CTS, H, PN | American (English/Dutch) | Rosenzweig (2007) Amyloid 14, 65 |
Glu61Ala (p.Glu81Ala) | c.242A>C | GAG>GCG | Exon 3 | | | Personal communication |
Glu62Lys (p.Glu82Lys) | c.243G>A | GAG>AAG | Exon 3 | H | Caucasian | Briani (2012) J Neurol.; 259(10):2226-8. |
Phe64Ile(p.Phe84Ile) | c.250T>A | TTT>ATT | Exon 3 | H, PN, AN | Caucasian | Tarquini (2007) Amyloid 14(4):289 |
Phe64Leu(p.Phe84Leu) | c.250T>C | TTT>CTT | Exon 3 | CTS, H, PN | Italian, American | Li (1991) Neurology 41, 893 |
Phe64Ser (p.Phe84Ser) | c.251T>C | TTT>TCT | Exon 3 | E, LM, PN, CNS | Canadian (Italian), British | Uemichi (1999) Arch Neurol 56, 1152 |
Phe64Val (p.Phe84Val) | c.250T>G | TTT>GTT | Exon 3 | AN, PN | German | Hinderhofer (2019) Amyloid 10:1-9. doi: 10.1080/13506129.2019.1598358 |
Gly67Arg (p.Gly87Arg) | c.259G>C | GGG>CGG | Exon 3 | E, AN | Bangladeshi | S. Valleix. ARiA III Symposium, Portugal 2014 |
Gly67Glu (p.Gly87Glu) | c.260G>A | GGG>GAG | Exon 3 | H, PN | Chinese | Mak (2007) Amyloid, 14, 293 |
Ile68Leu (p.Ile88Leu) | c.262A>T/C | ATA >C/TTA | Exon 3 | H | German, American | Almeida (1991) Basic Res Cardiol 86, 567 |
Tyr69His (p.Tyr89His) | c.265T>C | TAC>CAC | Exon 3 | E | Scottish, American | Zeldenrust (1994) Amyloid, 1, 17 |
Tyr69Ile (p.Tyr89Ile) | c.265-266 TA>AT | TAC >ATC | Exon 3 | CTS, H | Japanese | Takei (2003) Amyloid 10, 25 |
Lys70Asn (p.Lys90Asn) | c.270A>C/T | AAA>AAC/T | Exon 3 | CTS, E, PN | German, American | Izumoto (1992) Neurology 42, 2094 |
Val71Ala (p.Val91Ala) | c.272T>C | GTG>GCG | Exon 3 | CTS, E, PN | French, Spanish | Almeida (1993) Hum Mutat 2, 420. |
Glu72Gly (p.Glu92Gly) | c.275A>G | GAA >GGA | Exon 3 | H | Caucasian | Unpublished, Personal Communication |
Ile73Val (p.Ile93Val) | c.277A>G | ATA>GTA | Exon 3 | AN, PN | Bangladeshi | Booth (1997) Hum Mutat 12, 135 |
Asp74His (p.Asp94His) | c.280G>C | GAC>CAC | Exon 3 | non-amyloidogenic | German | Uemichi (1994) Amyloid, 1, 149 |
Ser77Phe (p.Ser97Phe) | c.290C>T | TCT>TTT | Exon 3 | AN, PN | French | Plante-Bordeneuve (1998) Neurology 51, 708 |
Ser77Tyr (p.Ser97Tyr) | c.290C>A | TCT>TAT | Exon 3 | H, K, PN | French, German, American (IL,TX) | Wallace (1988) J Clin Invest 81, 189 |
Tyr78Phe (p.Tyr98Phe) | c.293A>T | TAC>TTC | Exon 3 | CTS, S, PN | French (Italian) | Magy (2003) Amyloid 10, 29 |
Ala81Thr (p.Ala101Thr) | c.301G>A | GCA>ACA | Exon 3 | H | American | Connors (2003) Amyloid 10, 160 |
Ala81Val (p.Ala101Val) | c.302C>T | GCA>GTA | Exon 3 | H | Russian, Polish | Rowczenio (2019) Human Mutation.Jan;40(1):90-96 |
Gly83Arg (p.Gly103Arg) | c.307G>C | GGC>CGC | Exon 3 | E | Chinese | Xie Y (2012) Zhonghua Yi Xue Yi Chuan Xue Za Zhi.; 29(1):13-5. |
Ile84Asn (p.Ile104Asn) | c.311T>A | ATC>AAC | Exon 3 | CTS, E, H | American | Skinner (1992) Ophthalmology 99, 503 |
Ile84Ser (p.Ile104Ser) | c.311T>G | ATC>AGC | Exon 3 | CTS, E, H, LM | Hungarian, Swiss, American | Dwulet (1986) J Clin Invest 78, 880 |
Ile84Thr (p.Ile104Thr) | c.311T>C | ATC>ACC | Exon 3 | H, PN | German, British | Stangou (1998) Transplantation 66, 229 |
His88Arg (p.His108Arg) | c.323A>G | CAT>CGT | Exon 3 | H | Swedish | Holmgren (2005) Amyloid 12, 184 |
Glu89Gln (p.Glu109Gln) | c.325G>C | GAG>CAG | Exon 3 | CTS, H, PN | Italy | Almeida (1992) Hum Mutat 1, 211 |
Glu89Lys (p.Glu109Lys) | c.325G>A | GAG>AAG | Exon 3 | AN, H, PN | American | Nakamura (2000) Amyloid 7, 46 |
His90Asn (p.His110Asn) | c.328C>A | CAT>AAT | Exon 3 | non-amyloidogenic | German, Portuguese | Skare (1994) Clin Genet 45, 281 |
His90Asp (p.His110Asp) | c.328C>G | CAT>GAT | Exon 3 | H | British | Rowczenio (2019) Human Mutation.Jan;40(1):90-96 |
Ala91Ser (p.Ala111Ser) | c.331G>T | GCA>TCA | Exon 3 | AN, CTS, H, PN | French | Misrahi (1998) Hum Mutat 12, 71 |
Gln92Lys (p.Gln112Lys) | c.334G>A | GAG>AAG | Exon 3 | H | Japanese | Saito (2001) Hum Pathol 32, 237 |
Val93Met (p.Val113Met) | c.337G>A | GTG>ATG | Exon 4 | PN | Malian | Lozern (2008) The VIIth International Symposium on FAP and Other TTR Related Disorders. |
Val94Ala (p.Val114Ala) | c.341T>C | GTA>GCA | Exon 4 | AN, H, PN | German, Greek (Cyprus) | Kristen (2007) Amyloid 14(4): 283 |
Ala97Ser (p.Ala117Ser) | c.349G>T | GCC>TCC | Exon 4 | PN, H, E, AN | Chinese, Taiwanese | Tachibana (1999) Amyloid 6, 282 |
Ala97Gly (p.Ala117Gly) | c.350C>G | GCC>GGC | Exon 4 | H, PN | Japanese | Yasuda (1994) J Neurol Sci 121, 97 |
Gly101Ser (p.Gly121Ser) | c.361G>A | GGC>AGC | Exon 4 | non-amyloid | Japanese | Kishikawa M et al (1988) Hum Mutat 12, 363 |
Pro102Arg (p.Pro122Arg) | c.365C>G | CCC>CGC | Exon 4 | non-amyloid | German | Altland (1999) The 4th International Symposium on FAP and Other TTR Related Disorders. |
Arg103Ser (p. Arg123Ser) | c.367C>A | CGC>AGC | Exon 4 | H | American | Connors (2003) Amyloid 10, 160 |
Arg104Cys (p.Arg124Cys) | c.370C>T | CGC>TGC | Exon 4 | non-amyloid, | American | Torres (1996) Neuromuscular DisordVol 6, S21, |
Arg104His (p.Arg124His) | c.371G>A | CGC>CAC | Exon 4 | non-amyloid | Japanese, American | Terazaki (1999) Biochem Biophys Res Commun 264, 365 |
Ile107Val (p.Ile127Val) | c.379A>G | ATT>GTT | Exon 4 | CTS, H, PN | German, American | Jacobson (1994) Hum Mutat 3, 399 |
Ile107Phe (p.Ile127Phe) | c.379A>T | ATT>TTT | Exon 4 | AN, PN | British | Rowczenio (2019) Human Mutation.Jan;40(1):90-96 |
Ile107Met (p.Ile127Met) | c.381T>G | ATT>ATG | Exon 4 | H, PN | German | Connors (2003) Amyloid 10, 160 |
Ala108Ala (p.Ala128Ala) | c.384C>T | GCC>GCT | Exon 4 | non-amyloidogenic | Portuguese | Palha (1997) Amyloid 4,52 |
Ala109Ser (p.Ala129Ser) | c.385G>T | GCC>TCC | Exon 4 | PN | Japanese | Date (1997) J Neurol Sci 150, 143 |
Ala109Thr (p.Ala129Thr) | c.385G>A | GCC>ACC | Exon 4 | non-amyloidogenic | Portuguese | Moses (1990) J Clin Invest 86, 2025 |
Ala109Val (p.Ala129Val) | c.386C>T | GCC>GTC | Exon 4 | non-amyloidogenic | American | Izumoto (1993) J Rheumatol 20 188 |
Leu111Met (p.Leu131Met) | c.391C>A | CTG>ATG | Exon 4 | CTS, H | Danish | Nordlie (1988) Scand J Immunol 27, 119 |
Ser112Ile (p.Ser132Ile) | c.395G>T | AGC>ATC | Exon 4 | H, PN | Italian | De Lucia (1993) Clin Neuropathol 12, S44 |
Pro113Thr (p.Pro133Thr) | c.397C>A | CCC>ACC | Exon 4 | H | French | S. Valleix. ARiA III Symposium, Portugal 2014 |
Tyr114Cys (p.Tyr134Cys) | c.401A>G | TAC>TGC | Exon 4 | AN, E, H, LM, PN | Japanese | Ueno (1990) Biochem Biophys Res Commun 169, 143 |
Tyr114His (p.Tyr134His) | c.400T>C | TAC>CAC | Exon 4 | CTS | Japanese | Murakami (1994) Neurology 44, 315 |
Tyr114Ser (p.Tyr134Ser) | c.401A>C | TAC>TCC | Exon 4 | H | Japanese | Ando et al
XVI International Symposium on Amyloidosis |
Tyr116Ser (p.Tyr136Ser) | c.407A>C | TAT>TCT | Exon 4 | AN, PN, CTS | French | Misrahi (1997) Hum Mutat 12, 71 |
Thr119Met (p.Thr139Met) | c.416C>T | ACG>ATG | Exon 4 | non-amyloidogenic | Portuguese, American | Harrison (1991) Am J Med Genet 39, 442 |
Ala120Ser (p.Ala140Ser) | c.418G>T | GCT>TCT | Exon 4 | AN, H, PN | Caribbean | Lachmann (2002) N Engl J Med 346, 1786 |
Val122del (p. Val142del) | c.424_426 | del GTC | Exon 4 | CNS, CTS, H, PN | American (Ecuador/ Spain) | Uemichi (1997) Neurology 48 |
Val122Ile (p.Val142Ile) | c.424G>A | GTC>ATC | Exon 4 | H | African, Portuguese, American | Jacobson (1990) Am J Hum Genet 47, 127 |
Val122Ala (p.Val142Ala) | c.425T>C | GTC>GCC | Exon 4 | E, H, PN | British, American | Theberge (1999) Amyloid 6, 54 |
Pro125Ser (p.Pro145Ser) | c.433C>T | CCC>TCC | Exon 4 | non-amyloidogenic | Italian | Ferlini (1996) Neuromuscular Disord Vol 6, S23, |