Mutations in Transthyretin Gene (TTR)

Protein Variant (OtherName)

Sequence Variant (mRNA)

Codon Change

Location

Reported Phenotype

Ethnic Group

References

 

p.Gly6Ser (p.Gly26Ser)

c.76G>A

GGT>AGT

Exon 2

non-amyloidogenic

Caucasian

Jacobsen (1994) Hum Mutat 3, 254

p.Cys10Arg (p.Cys30Arg)

c.88T>C

TGT>CGT

Exon 2

AN, E, H, PN

American (Hungarian)

Uemichi (1992) J Med Genet 29, 888

p.Leu12Pro (p.Leu32Pro)

c.95T>C

CTG>CCG

Exon 2

L, LM

British

Brett (1999) Brain 122, 183

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.

p.Asp18Asn (p.Asp38Asn)

c.112G>A

GAT>AAT

Exon 2

H

American

Connors (2003) Amyloid 10, 160

p.Asp18Gly (p.Asp38Gly)

c.113A>G

GAT>GGT

Exon 2

LM

Hungarian

Vidal (1996) Am J Pathol 148, 361

p.Asp18Glu (p.Asp38Glu)

c.114T>A or G

GAT> GAA/G

Exon 2

PN

South American

Booth (1996) Neuromuscul Disord 6S1, S20.

p.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

p.Ser23Asn (p.Ser43Asn)

c.128G>A

AGT >AAT

Exon 2

E, H, PN

Portuguese, American

Connors (1999) Amyloid 6, 114

p.Pro24Ser (p.Pro44Ser)

c.130C>T

CCT >TCT

Exon 2

CTS, H, PN

American

Uemichi (1995) J Med Genet 32, 279

p.Ala25Ser (p.Ala55Ser)

c.133G>T

GCC>TCC

Exon 2

H, PN

American

Yazatic (2002) Muscle Nerve 25, 244

p.Ala25Thr (p.Ala45Thr)

c.133G>A

GCC>ACC

Exon 2

CNS, PN

Japanese

Sekijima (2003) Lab Invest 83, 409

p.Val28Met (p.Val48Met)

c.142G>A

GTG>ATG

Exon 2

PN

Portuguese

Carvalho (2000) Muscle Nerve 23, 1016

p.Val30Leu (p.Val50Leu)

c.148G>C

GTG>CTG

Exon 2

AN, H, K, PN

Japanese, American

Murakami (1992) Biochem Biophys Res Commun 187, 397

p.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

p.Val30Ala (p.Val50Ala)

c.149T>C GTG>GCG Exon 2 AN, H American (German) Jones (1992) Clin Genet 41, 70

p.Val30Gly (p.Val50Gly)

 c.149T>G GTG>GGG Exon 2 CNS, E, LM American Peterson (1997) Ann Neurol 41, 307

p.Val32Ala (p.Val52Ala)

 c.155T>C GTG>GCG Exon 2 AN, H, PN Chinese Pica (2005) Muscle Nerve 32, 223

p.Val32Gly (p.Val52Gly)

 c.155T>G GTG>GGG Exon 2 AN, PN French Plante-Bordeneuve (2003) J Med Genet 40, e120

p.Phe33Ile (p.Phe53Ile)

c.157T>A TTC>ATC Exon 2 E, PN Jewish Nakazato (1984) Biochem Biophys Res Commun 123, 921

p.Phe33Leu (p.Phe53Leu)

 c.157T>C TTC>CTC Exon 2 PN American Li (1991) Neurology 41, 893

p.Phe33Val (p.Phe53Val)

c.157T>G TTC>GTC Exon 2 PN Chinese, British Booth (1996) Neuromuscul Disord 6S1, S20

p.Phe33Cys (p.Phe53Cys)

 c.158T>G TTC>TGC Exon 2 CTS, E, K,A H American Connors (2003) Amyloid 10, 160

p.Arg34Gly (p.Arg54Gly)

c.160A>G AGA>GGA Exon 2 E Kosovo Rowczenio (2006) XI International Symposium on Amyloidosis

p.Arg34Thr (p.Arg54Thr)

 c.161G>C AGA > ACA Exon 2 H, PN Italian Patrosso (1998) Am J Med Genet 77, 135

p.Lys35Asn (p.Lys55Asn)

 c.165G>C or T AAG>AAC/T Exon 2 AN, H, PN French Reilly (1995) Brain 118, 849

p.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

p.Asp38Ala (p.Asp58Ala)

c.173A>C GAT>GCT Exon 2 AN, H, PN Japanese Shimizu (1998) Rinsho Byori 46, 461

p.Asp38Val (p.Asp58Val)

 c.173A>T GAT>GTT Exon 2 H, PN Guianese Lachmann (2002) N Engl J Med 346, 1786

p.Asp39Val (p.Asn59Val)

c.176A>T GAC>GTC Exon 2 H German Eriksson Rocken C, Am J Surg Pathol. 2009 Jan;33#1#:5865

p.Trp41Leu (p.Trp61Leu)

c.182G>T TGG>TTG Exon 2 E American (Russian) Yazaki (2002) Amyloid 9, 263

p.Glu42Gly (p.Glu62Gly)

 c.185A>G GAG>GGG Exon 2 AN, H, PN Japanese, Russian, American Ueno (1990) Biochem Biophys Res Commun 169, 1117

p.Glu42Asp (p.Glu62Asp)

 c.186G>C or T GAG>GAC/T Exon 2 H French Dupuy (1998) Amyloid 5, 285

p.Phe44Tyr (p.Phe64Tyr)

 c.191T>A TTT>TAT Exon 2 AN, PN French Plante-Bordeneuve (2003) J Med Genet 40, e120

p.Phe44Ser (p.Phe64Ser)

c.191T>C TTT>TCT Exon 2 AN, H, PN American Klein (1998) Neurology 51, 1462

p.Ala45Ser (p.Ala65Ser)

c.193G>T GCC>TCC Exon 2 H Swedish Janunger (2000) Amyloid 7, 137

p.Ala45Thr (p.Ala65Thr)

c.193G>A GCC >ACC Exon 2 H Irish, Italian, American Saraiva (1992) Am J Hum Genet 50, 1027

p.Ala45Asp (p.Ala65Asp)

c.194C>A GCC >GAC Exon 2 H, PN Irish, American Saraiva (1995) Hum Mutat 5, 191

p.Gly47Arg (p.Gly67Arg)

 c.198G>C GGG>CGG Exon 2 AN, PN Japanese Murakami (1992) Biochem Biophys Res Commun 182, 520

p.Gly47Arg (p.Gly67Arg)

 c.198G>A GGG>AGG Exon 2 H, PN Italian Ferlini (2000) Clin Genet 57, 284

p.Gly47Ala (p.Gly67Ala)

 c.199G>C GGG>GCG Exon 2 AN, H, PN German, Italian, French Ferlini (1994) Hum Mutat 4, 61

p.Gly47Glu (p.Gly67Glu)

c.199G>A GGG>GAG Exon 2 H, K, PN German, Italian Pelo (2002) Amyloid 9, 35

p.Gly47Val (p.Gly67Val)

c.199G>T GGG>GTG Exon 2 AN, CTS, H, PN Sri Lankan Booth (1993) Amyloid, 456

p.Thr49Ala (p.Thr69Ala)

c.205A>G ACC>GCC Exon 3 CTS, H, PN Italian, French Almeida (1992) Hum Mutat 1, 211

p.Thr49Pro (p.Thr69Pro)

c.205A>C ACC>CCC Exon 3 H American Connors (2003) Amyloid 10, 160

p.Thr49Ile (p.Thr69Ile)

c.206C>T ACC>ATC Exon 3 H, PN Japanese Nakamura (1999) Hum Hered 49, 186

p.Thr49Ser (p.Thr69Ser)

c.206C>G ACC>AGC Exon 3 PN Indian Rowczenio (2010) XII International Symposium on Amyloidosis

p.Ser50Ile (p.Ser70Ile)

c.209G>T AGT>ATT Exon 3 AN, H, PN Japanese, Spanish Saeki (1992) FEBS Lett 308, 35

p.Ser50Arg (p.Ser70Arg)

 c.210T>G AGT>AGG Exon 3 AN, H, PN Italian, French, Japanese Ueno (1990) Biochem Biophys Res Commun 169, 1117

p.Glu51Gly (p.Glu71Gly)

 c.212A>G GAG>GGG Exon 3 H American Connors (2003) Amyloid 10, 160

p.Ser52Pro (p.Ser72Pro)

 c.214T>C TCT>CCT Exon 3 AN, H, K, PN British Booth (1993) Amyloid, 456

p.Gly53Glu (p.Gly73Glu)

c.218G>A GGA>GAA Exon 3 CNS, LM, N French Ellie (2001) Neurology 57, 135

p.Gly53Ala (p.Gly73Ala)

c.218G>C GGA>GCA Exon 3 AN, E, H, PN, LM British Douglass (2007) J Neurol Neurosurg Psychiatry 78, 193

p.Glu54Leu (p.Glu74Leu)

 c.220_221 GA>TT GAG>TTG Exon 3 H Belgian Rowczenio (2006) XI International Symposium on Amyloidosis

p.Glu54Lys (p.Glu74Lys)

c.220G>A GAG>AAG Exon 3 AN, H, PN Japanese Togashi (1999) Neurology 53, 637

p.Glu54Gly (p.Glu74Gly)

c.221A>G GAG>GGG Exon 3 AN, E, PN British Reilly (1995) Brain 118, 849

p.Glu54Asp (p.Glu74Asp)

c.222G>T GAG>GAC Exon 3 Not listed German Eriksson Rocken C, Am J Surg Pathol. 2009 Jan;33(1):5865.

p.Glu54Gln (p.Glu74Gln)

c.220G>C GAG>CAG Exon 3 H, PN Romanian New mutation - Unpublished data

p.Leu55Gln (p.Leu75Gln)

c.224T>A CTG>CAG Exon 3 AN, E, PN American (Spanish) Yazaki (2002) Amyloid 9, 268

p.Leu55Arg (p.Leu75Arg)

c.224T>G CTG>CGG Exon 3 LM, PN German Connors (2003) Amyloid 10, 160

p.Leu55Pro (p.Leu75Pro)

c.224T>C CTG>CCG Exon 3 AN, E, H, PN Taiwanese, American, (Dutch, German) Jacobson (1992) Hum Genet 89, 353

p.His56Arg (p.His76Arg)

 c.227A>G CAT>CGT Exon 3 H American Jacobson (1999) TTR Locus-specific database Unpublished

p.Leu58Arg (p.Leu78Arg)

c.233T>G CTC>CGC Exon 3 AN, CTS, E, H Japanese Saeki (1991) Biochem Biophys Res Commun 180, 380

p.Leu58His (p.Leu78His)

c.233T>A CTC>CAC Exon 3 CTS, H German, American (MD) Nichols (1989) Genomics 5, 535

p.Thr59Lys (p.Thr79Lys)

c.236C>A ACA>AAA Exon 3 AN, H, PN Italian, American (Asian) Saraiva (1995) Hum Mutat 5, 191

p.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

p.Glu61Lys (p.Glu81Lys)

 c.241G>A GAG>AAG Exon 3 PN Japanese Shiomi (1993) Biochem Biophys Res Commun 194, 1090

p.Glu61Gly (p.Glu81Gly)

c.242A>G GAG>GGG Exon 3 CTS, H, PN American (English/Dutch) Rosenzweig (2007) Amyloid 14, 65

p.Phe64Leu (p.Phe84Leu)

 c.250T>C TTT>CTT Exon 3 CTS, H, PN Italian, American Li (1991) Neurology 41, 893

p.Phe64Ser (p.Phe84Ser)

c.251T>C TTT>TCT Exon 3 E, LM, PN, CNS Canadian (Italian), British Uemichi (1999) Arch Neurol 56, 1152

p.Gly67Glu (p.Gly87Glu)

c.260G>A GGG>GAG Exon 3 H, PN Chinese Mak (2007) Amyloid, 14, 293

p.Ile68Leu (p.Ile88Leu)

c.262A>T/C ATA >C/TTA Exon 3 H German, American Almeida (1991) Basic Res Cardiol 86, 567

p.Tyr69His (p.Tyr89His)

 c.265T>C TAC>CAC Exon 3 E Scottish, American Zeldenrust (1994) Amyloid, 1, 17

p.Tyr69Ile (p.Tyr89Ile)

c.265-266 TA>AT TAC >ATC Exon 3 CTS, H Japanese Takei (2003) Amyloid 10, 25

p.Lys70Asn (p.Lys90Asn)

 c.270A>C/T AAA>AAC/T Exon 3 CTS, E, PN German, American Izumoto (1992) Neurology 42, 2094

p.Val71Ala (p.Val91Ala)

c.272T>C GTG>GCG Exon 3 CTS, E, PN French, Spanish Almeida (1993) Hum Mutat 2, 420.

p.Ile73Val (p.Ile93Val)

c.277A>G ATA>GTA Exon 3 AN, PN Bangladeshi Booth (1997) Hum Mutat 12, 135

p.Asp74His (p.Asp94His)

 c.280G>C GAC>CAC Exon 3 non-amyloidogenic German Uemichi (1994) Amyloid, 1, 149

p.Ser77Phe (p.Ser97Phe)

c.290C>T TCT>TTT Exon 3 AN, PN French Plante-Bordeneuve (1998) Neurology 51, 708

p.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

p.Tyr78Phe (p.Tyr98Phe)

c.293A>T TAC>TTC Exon 3 CTS, S, PN French (Italian) Magy (2003) Amyloid 10, 29

p.Ala81Thr (p.Ala101Thr)

c.301G>A GCA>ACA Exon 3 H American Connors (2003) Amyloid 10, 160

p.Ala81Val (p.Ala101Val)

c.302C>T GCA>ACA Exon 3 H Russian, Polish Rowczenio (2006) XI International Symposium on Amyloidosis

p.Ile84Asn (p.Ile104Asn)

c.311T>A ATC>AAC Exon 3 CTS, E, H American Skinner (1992) Ophthalmology 99, 503

p.Ile84Ser (p.Ile104Ser)

c.311T>G ATC>AGC Exon 3 CTS, E, H, LM Hungarian, Swiss, American Dwulet (1986) J Clin Invest 78, 880

p.Ile84Thr (p.Ile104Thr)

 c.311T>C ATC>ACC Exon 3 H, PN German, British Stangou (1998) Transplantation 66, 229

p.Glu89Gln (p.Glu109Gln)

c.325G>C GAG>CAG Exon 3 CTS, H, PN Italy Almeida (1992) Hum Mutat 1, 211

p.Glu89Lys (p.Glu109Lys)

c.325G>A GAG>AAG Exon 3 AN, H, PN American Nakamura (2000) Amyloid 7, 46

p.His90Asn (p.His110Asn)

c.328C>A CAT>AAT Exon 3 non-amyloidogenic German, Portuguese Skare (1994) Clin Genet 45, 281

p.His90Asp (p.His110Asp)

c.328C>G CAT>GAT Exon 3 H British Rowczenio (2006) XI International Symposium on Amyloidosis

p.Ala91Ser (p.Ala111Ser)

c.331G>T GCA>TCA Exon 3 AN, CTS, H, PN French Misrahi (1998) Hum Mutat 12, 71

p.Gln92Lys (p.Gln112Lys)

c.334G>A GAG>AAG Exon 3 H Japanese Saito (2001) Hum Pathol 32, 237

p.Val93Met (p.Val113Met)

 c.367G>A GTG>ATG Exon 4 PN Malian Lozern (2008) The VIIth International Symposium on FAP and Other TTR Related Disorders.

p.Val94Ala (p.Val114Ala)

c.341T>C GTA>GCA Exon 4 AN, H, PN German, Greek (Cyprus) Kristen (2007) Amyloid 14(4): 283

p.Ala97Ser (p.Ala117Ser)

 c.349G>T GCC>TCC Exon 4   Chinese, Taiwanese Tachibana (1999) Amyloid 6, 282

p.Ala97Gly (p.Ala117Gly)

 c.350C>G GCC>GGC Exon 4 H, PN Japanese Yasuda (1994) J Neurol Sci 121, 97

p.Gly101Ser (p.Gly121Ser)

c.361G>A GGC>AGC Exon 4 non-amyloid Japanese Kishikawa M et al (1988) Hum Mutat 12, 363

p.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.

p. Arg103Ser (p. Arg123Ser)

c.367C>A CGC>AGC Exon 4 H American Connors (2003) Amyloid 10, 160

p.Arg104Cys (p.Arg124Cys)

 c.370C>T CGC>TGC Exon 4 non-amyloid, American Torres (1996) Neuromuscular DisordVol 6, S21,

p.Arg104His (p.Arg124His)

 c.371G>A CGC>CAC Exon 4 non-amyloid Japanese, American Terazaki (1999) Biochem Biophys Res Commun 264, 365

p.Ile107Val (p.Ile127Val)

c.379A>G ATT>GTT Exon 4 CTS, H, PN German, American Jacobson (1994) Hum Mutat 3, 399

p.Ile107Phe (p.Ile127Phe)

c.379A>T ATT>TTT Exon 4 AN, PN British Rowczenio (2006) XI International Symposium on Amyloidosis

p.Ile107Met (p.Ile127Met)

 c.381T>G ATT>ATG Exon 4 H, PN German Connors (2003) Amyloid 10, 160

p.Ala108Ala (p.Ala128Ala)

 c.384C>T GCC>GCT Exon 4 non-amyloidogenic Portuguese Palha (1997) Amyloid 4,52

p.Ala109Ser (p.Ala129Ser)

c.385G>T GCC>TCC Exon 4 PN Japanese Date (1997) J Neurol Sci 150, 143

p.Ala109Thr (p.Ala129Thr)

c.385G>A GCC>ACC Exon 4 non-amyloidogenic Portuguese Moses (1990) J Clin Invest 86, 2025

p.Ala109Val (p.Ala129Val)

 c.386C>T GCC>GTC Exon 4 non-amyloidogenic American Izumoto (1993) J Rheumatol 20 188

p.Leu111Met (p.Leu131Met)

c.391C>A CTG>ATG Exon 4 CTS, H Danish Nordlie (1988) Scand J Immunol 27, 119

p.Ser112Ile (p.Ser132Ile)

c.395G>T AGC>ATC Exon 4 H, PN Italian De Lucia (1993) Clin Neuropathol 12, S44

p.Tyr114His (p.Tyr134His)

c.400T>C TAC>CAC Exon 4 CTS Japanese Murakami (1994) Neurology 44, 315

p.Tyr114Cys (p.Tyr134Cys)

c.401A>G TAC>TGC Exon 4 AN, E, H, LM, PN Japanese Ueno (1990) Biochem Biophys Res Commun 169, 143

p.Tyr116Ser (p.Tyr136Ser)

c.407A>C TAT>TCT Exon 4 AN, PN, CTS French Misrahi (1997) Hum Mutat 12, 71

p.Thr119Met (p.Thr139Met)

c.416C>T ACG>ATG Exon 4 non-amyloidogenic Portuguese, American Harrison (1991) Am J Med Genet 39, 442

p.Ala120Ser (p.Ala140Ser)

c.418G>T GCT>TCT Exon 4 AN, H, PN Caribbean Lachmann (2002) N Engl J Med 346, 1786

p. Val122del (p. Val142del)

c.424_426 del GTC Exon 4 CNS, CTS, H, PN American (Ecuador/ Spain) Uemichi (1997) Neurology 48

p.Val122Ile (p.Val142Ile)

c.424G>A GTC>ATC Exon 4 H African, Portuguese, American Jacobsen (1990) Am J Hum Genet 47, 127

p.Val122Ala (p.Val142Ala)

c.425T>C GTC>GCC Exon 4 E, H, PN British, American Theberge (1999) Amyloid 6, 54

p.Pro125Ser (p.Pro145Ser)

c.433C>T CCC>TCC Exon 4 non-amyloidogenic Italian Ferlini (1996) Neuromuscular Disord Vol 6, S23,

 

Mutations in Fibrinogen alpha chain Gene (FGA)

Protein Variant

Sequence Variant (mRNA)

Codon Change

Location

Reported Phenotype

Ethnic Group

References

 

p.Gly519Arg

c. 1612G>A

GGA>AGA

5' end of exon5

non-amyloidogenic

British

New mutation - Unpublished data

p.Gly519Glu

c. 1613G>A

GGA>GAA

5' end of exon5

non-amyloidogenic

British

New mutation - Unpublished data

p.Met517_Phe521 delinsGlnSerfsX28 (termination codon 548)

c.1606_1620 delATGTTAGGA GAGTTT insCA

Frame shifting mutation

5' end of exon5

Renal failure

Chinese

Gyung Kang (2005) Kidney Int 68, 1994

p.Val522AlafsX27 (termination codon 548)

c.1622delT

Frame shifting mutation

5' end of exon5

Renal failure

French

Asl (1997) Blood 90, 4799

p.Glu524GlufsX25 (termination codon 548)

c.1629delG

Frame shifting mutation

5' end of exon5

Renal failure

American

Uemichi (1996) Blood 87, 4197

p.Thr525ThrfsX24 (termination codon 548)

c.1632delT

Frame shifting mutation

5' end of exon5

Renal failure

Chinese

Gillmore JD, J Am Soc Nephrol. 2009

p.Glu526Val

c.1634A>T

GAG>GTG

5' end of exon5

Renal failure

Northern European

Uemichi (1994) J Clin Invest 93, 731

p.Thr538Lys

c.1670C>A

ACA>AAA

5' end of exon5

Renal failure

Chinese

Gillmore JD, J Am Soc Nephrol. 2009

p.Glu540Val

c.1676A>T

GAA>GTA

5' end of exon5

Renal failure

German

Gillmore JD, J Am Soc Nephrol. 2009

p.Pro552His

c.1712C>A

CCT>CAT

5' end of exon5

Renal failure

Afro-Carribean

Gillmore JD, J Am Soc Nephrol. 2009

p.Arg554Leu

c.1718G>T

CGT>CTT

5' end of exon5

Renal failure

Peruvian,

Benson (1993) Nat Genet 3, 252

 

Mutations in Apolipoprotein AI Gene (APOA1)

Protein Variant

Sequence Variant (mRNA)

Codon Change

Location

Reported Phenotype

Ethnic Group

References

 

p.Gly26Arg

c.148G>C

GGC>CGC

Exon 3

Renal impairment, Hepatomegaly, Neuropathy

Northern European

Nichols (1990) Genomics 8, 318

p.Glu34Lys

c.172G>A

GAA>AAA

Exon 3

Renal impairment

Polish

Rowczenio (2010) XII International Symposium on Amyloidosis

p.Ser36Ala

c.178T>G

TCC>GCC

Exon 3

non-amyloidogenic

British

New mutation - Rowczenio (2010) XII International Symposium on Amyloidosis

p.Trp50Arg

c..220T>C

TGG>CGG

Exon 4

Renal impairment, Hepatomegaly

Jewish (Ashkenazi)

Booth (1995) QJM 88, 695

p.Leu60Arg

c.251T>G

CTG>CGG

Exon 4

Renal impairment, Hepatomegaly

British, Irish

Soutar (1992) Proc Natl Acad Sci U S A 89, 7389

p.Leu64Pro

c.263T>C

CTC>CCC

Exon 4

Renal impairment

Canadian-Italian

Murphy (2004) Am J Kidney Dis 44, 1103

p.Phe71Tyr

c.284T>A

TTC>TAC

Exon 4

Palatal mass, (normal organ function)

British

Rowczenio (2006) XI International Symposium

p.Leu60-Phe71delins6

c.250_284del

in frame deleti

Exon 4

Hepatomegaly and liver failure

Spanish

Booth (1996) J Clin Invest 97, 2714

p.Glu70_Trp72del

c.280_288del

delGAGTTC TGG

Exon 4

Renal impairment

British

Persey (1998) Kidney Int 53, 276

p.Asn74LysfsX106

c.293_294insA

Frame shifting insertion

Exon 4

Renal impairment

German

Errikson Rocken, J Mol Diagn. 2009 May;11(3):257-62.

p.Leu75Pro

c.296T>C

CTG>CCG

Exon 4

Hepatomegaly, Renal impairment

Italian Other

Coriu (2003) Amyloid 10, 215

p.Leu90Pro

c.342T>C

CTG>CCG

Exon 4

Skin lesions, cardiomyopathy, dysphonia

French

Hamidi Asl (1999) Am J Pathol 154, 221

p.Lys107del

c.391_393del

delAAG

Exon 4

Angina associated with amyloid in aortic intima

Scandinavian

Amarzguioui (1998), Biochemical and Biophysical Research Communications

p.Ala154GlyfsX48

c.532_533dup GC

Frame shifting duplication

Exon 4

Renal impairment, polyneuropathy

German

Errikson Rocken, J Mol Diagn. 2009 May;11(3):257-62.

p.His155MetfsX46

c.535delC

Frame shifting deletion

Exon 4

Renal impairment, polyneuropathy

British

New mutation - Rowczenio (2010) XII International Symposium on Amyloidosis

p.Leu170Pro

c.581T>C

CTG>CCG

Exon 4

Asymptomatic (normal organ function)

German

Errikson Rocken, J Mol Diagn. 2009 May;11(3):257-62.

p.Arg173Pro

c.590G>C

CGC>CCC

Exon 4

Skin lesions, dysphonia, cardiomyopathy

American, British

Hamidi Asl (1999) Biochem Biophys Res Commun 257, 584

p.Leu174Ser

c.593T>C

TTG>TCG

Exon 4

Infertility, cardiomyopathy, bilateral carpal tunnel syndrome, polyneuropathy

Italian, Dutch

Obici (1999) Am J Pathol 155, 695

p.Ala175Pro

c.595G>C

GCC>CCC

Exon 4

Dysphonia, Infertility

British

Lachmann (2002) N Engl J Med 346, 1786

p.Leu178His

c.605T>A

CTT>CAT

Exon 4

Dysphonia, cardiomyopathy

French

de Sousa (2000) Am J Pathol 156, 1911

 

Mutations in Apolipoprotein AII Gene (APOA2)

Protein Variant (OtherName)

Sequence Variant(mRNA)

Codon Change

Location

Reported Phenotype

Ethnic Group

References

 

p.*101Argext*21

c.301T>A

TGA>AGA

Exon 4

Renal failure

Spanish

De Gracia (2006) QJM 99, 274

p.*101Argext*21

c.301T>C

TGA>CGA

Exon 4

Renal failure

Armenian

Yazaki (2003) Kidney Int 64, 11

p.*101Serext*21

c.301T>G

TGA>GGA

Exon 4

Renal failure

American

Benson (2001) Genomics 72, 272

p.*101Glyext*21

c.302G>C

TGA>TCA

Exon 4

Renal failure

Caucasian

Yazaki (2001) Kidney Int 60, 1658

 

Mutations in Lysozyme Gene (LYZ)

Protein Variant

Sequence Variant (mRNA)

Codon Change

Location

Reported Phenotype

Ethnic Group

References

 

p.Tyr54Asn

c.214T>A

TAT>AAT

Exon 2

Cardiomyopathy, HHT

Not known

Lacy M.Q. (2010) XII International Symposium on Amyloidosis

p.Ile56Thr

c.221T>C

ATA>ACA

Exon 2

Renal failure

British

Pepys (1993) Nature 362, 553

p.Phe57Ile

c.223T>A

TTT>ATT

Exon 2

Renal failure

Italian Canadian

Yazaki (2003) Kidney Int 63, 1652

p.Trp64Arg

c.244T>C

TGG>CGG

Exon 2

Renal failure, GI tract involvement Sicca syndrome

French

Valleix (2002) Kidney Int 61, 907

p.Asp67His

c.253G>C

GAT>CAT

Exon 2

Renal failure, GI tract involvement, Liver, Spleen, Sicca syndrome

British

Pepys (1993) Nature 362, 553

p.Asp67Gly

c.254A>G

GAT>GGT

Exon 2

Renal failure, Sicca syndrome

Romanian

Wooliver (2006) XI International Symposium

p.Thr70Asn polymorph

c.263C>A

ACC>AAC

Exon 2

Non-amyloidogenic

Caucasian

Yazaki (2003) Kidney Int 63, 1652

p.Trp112Arg

c.388T>C

TGG>CGG

Exon 4

GI tract involvement, Liver, Spleen, Renal failure

German

Yazaki (2003) Kidney Int 63, 1652 Rocken(2005)

 

Mutations in Gelsolin Gene (GSN)

Protein Variant (OtherName)

Sequence Variant (mRNA)

Codon Change

Location

Reported Phenotype

Ethnic Group

References

 

p.Asp214Asn (p.Asp187Asn)

c.640G>A

GAC>AAC

Exon 4

Cranial neuropathy, Corneal lattice dystrophy, Renal and cardiac involvement

Finish, American, Dutch, Danish, Iranian, Japanese

Maury (1990) FEBS Lett 276, 75

p.Asp214Tyr (p.Asp187Tyr)

c.640G>T

GAC>TAC

Exon 4

Cranial neuropathy, Corneal lattice dystrophy, Renal and cardiac involvement

Czech, Danish

de la Chapelle (1992) Nat Genet 2,