Mutations in Hereditary Amyloidosis
Mutations in Apolipoprotein A-I Gene (APOA1)
| Name (Protein Variant incl. 18-aa signal peptide and 6-aa propeptide) | Sequence Variant (mRNA) | Codon Change | Location | Reported Phenotype | Ethnic Group | References |
|---|---|---|---|---|---|---|
| Gly26Arg (p.Gly50Arg) | c.148G>C | GGC>CGC | Exon 3 | Renal impairment, Hepatomegaly, Neuropathy | Northern European | Nichols (1990) Genomics 8, 318 |
| Glu34Lys (p.Glu58Lys) | c.172G>A | GAA>AAA | Exon 3 | Renal impairment | Polish | Rowczenio (2011) Am J Pathol. 179(4):1978 |
| Ser36Ala(p.Ser60Ala) | c.178T>G | TCC>GCC | Exon 3 | non-amyloidogenic | British | Rowczenio (2011) Am J Pathol. 179(4):1978 |
| Gly35Val (p.Gly59Val) | c.176G>T | GGC>GTC | Exon 3 | non-amyloidogenic | Caucasian | Unpublished |
| Trp50Arg (p.Trp74Arg) | c..220T>C | TGG>CGG | Exon 4 | Renal impairment, Hepatomegaly | Jewish (Ashkenazi) | Booth (1995) QJM 88, 695 |
| Trp50Arg (p.Trp74Arg) | c..220T>A | TGG>AGG | Exon 4 | Renal impairment | Danish | Unpublished, Personal Communication |
| Leu60Arg (p.Leu84Arg) | c.251T>G | CTG>CGG | Exon 4 | Renal impairment, Hepatomegaly, Cardiomyopathy | British, Irish | Soutar (1992) Proc Natl Acad Sci U S A 89, 7389 |
| Leu64Pro (p.Leu88Pro) | c.263T>C | CTC>CCC | Exon 4 | Renal impairment | Canadian-Italian | Murphy (2004) Am J Kidney Dis 44, 1103 |
| Phe71Tyr (p.Phe95Tyr) | c.284T>A | TTC>TAC | Exon 4 | Palatal mass, (normal organ function) | British | Rowczenio (2011) Am J Pathol. 179(4):1978 |
| Leu60_Phe71delins60Val_61Thr (p.Leu84_Phe95delins84Val_85Thr) | c.250_284delinsGTCAC | in frame deletion/insertion | Exon 4 | Hepatomegaly and liver failure | Spanish | Booth (1996) J Clin Invest 97, 2714 |
| Glu70_Trp72del (p.Glu94_Trp96del) | c.282_290del | delGTTCTGGGA | Exon 4 | Renal impairment | British | Persey (1998) Kidney Int 53, 276 |
| Asn74Lysfs*106 (p.Asn98Lysfs*106) | c.293_294insA | Frame shifting insertion | Exon 4 | Renal impairment | German | Errikson (2009) J Mol Diagn. 11(3):257 |
| Leu75Pro (p.Leu99Pro) | c.296T>C | CTG>CCG | Exon 4 | Hepatomegaly, Renal impairment | Italian Other | Coriu (2003) Amyloid 10, 215 |
| Leu90Pro (p.Leu114Pro) | c.342T>C | CTG>CCG | Exon 4 | Skin lesions, cardiomyopathy, dysphonia | French | Hamidi Asl (1999) Am J Pathol 154, 221 |
| Lys107del (p.Lys131del) | c.391_393del | delAAG | Exon 4 | Angina associated with amyloid in aortic intima | Scandinavian | Amarzguioui (1998), Biochemical and Biophysical Research Communications |
| Ala154Glyfs*48 (p.Ala154Glyfs*48) | c.532_533dupGC | Frame shifting duplication | Exon 4 | Renal impairment, polyneuropathy | German | Errikson (2009) J Mol Diagn. 11(3):257 |
| His155Metfs*46 (p.His179Metfs*46) | c.535delC | Frame shifting deletion | Exon 4 | Renal impairment, polyneuropathy | British | Rowczenio (2011) Am J Pathol. 179(4):1978 |
| Ala164Ser (p.Ala188Ser) | c.562G>T | GCC>TCC | Exon 4 | pathogenicity unclear | Caucasian | Unpublished |
| Leu170Pro (p.Leu194Pro) | c.581T>C | CTG>CCG | Exon 4 | Asymptomatic (normal organ function) | German | Errikson (2009) J Mol Diagn. 11(3):257 |
| Gln172Pro (p.Gln196Pro) | c.587_588delinsCC | CAG>CCC | Exon 4 | Likely amyloidogenic | Caucasian | Unpublished |
| Arg173Pro (p.Arg197Pro) | c.590G>C | CGC>CCC | Exon 4 | Skin lesions, dysphonia, cardiomyopathy | American, British | Hamidi Asl (1999) Biochem Biophys Res Commun 257, 584 |
| Leu174Ser (p.Leu198Ser) | c.593T>C | TTG>TCG | Exon 4 | Infertility, cardiomyopathy, bilateral carpal tunnel syndrome, polyneuropathy | Italian, Dutch | Obici (1999) Am J Pathol 155, 695 |
| Ala175Pro (p.Ala199Pro) | c.595G>C | GCC>CCC | Exon 4 | Dysphonia, Infertility | British | Rowczenio (2011) Am J Pathol. 179(4):1978 |
| Leu178His (p.Leu202His) | c.605T>A | CTT>CAT | Exon 4 | Dysphonia, cardiomyopathy | French | de Sousa (2000) Am J Pathol 156, 1911 |
| Leu178Pro (p.Leu202Pro) | c.605T>C | CTG>CCG | Exon 4 | Cardiomyopathy, hoarseness | Dutch | Hazenberg (2009) Laryngoscope 119(3): 608 |