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>CGGC>CGCExon 3Renal impairment, Hepatomegaly, NeuropathyNorthern European Nichols (1990) Genomics 8, 318
Glu34Lys (p.Glu58Lys) c.172G>AGAA>AAAExon 3Renal impairmentPolish Rowczenio (2011) Am J Pathol. 179(4):1978
Ser36Ala(p.Ser60Ala) c.178T>GTCC>GCCExon 3non-amyloidogenicBritish Rowczenio (2011) Am J Pathol. 179(4):1978
Gly35Val (p.Gly59Val) c.176G>TGGC>GTCExon 3non-amyloidogenicCaucasian Unpublished
Trp50Arg (p.Trp74Arg) c..220T>CTGG>CGGExon 4Renal impairment, HepatomegalyJewish (Ashkenazi) Booth (1995) QJM 88, 695
Trp50Arg (p.Trp74Arg) c..220T>ATGG>AGGExon 4Renal impairmentDanish Unpublished, Personal Communication
Leu60Arg (p.Leu84Arg) c.251T>GCTG>CGGExon 4Renal impairment, Hepatomegaly, CardiomyopathyBritish, Irish Soutar (1992) Proc Natl Acad Sci U S A 89, 7389
Leu64Pro (p.Leu88Pro) c.263T>CCTC>CCCExon 4Renal impairmentCanadian-Italian Murphy (2004) Am J Kidney Dis 44, 1103
Phe71Tyr (p.Phe95Tyr) c.284T>ATTC>TACExon 4Palatal mass, (normal organ function)British Rowczenio (2011) Am J Pathol. 179(4):1978
Leu60_Phe71delins60Val_61Thr (p.Leu84_Phe95delins84Val_85Thr) c.250_284delinsGTCACin frame deletion/insertionExon 4Hepatomegaly and liver failureSpanish Booth (1996) J Clin Invest 97, 2714
Glu70_Trp72del (p.Glu94_Trp96del) c.280_288deldelGAGTTCTGGExon 4Renal impairmentBritish Persey (1998) Kidney Int 53, 276
Asn74Lysfs*106 (p.Asn98Lysfs*106) c.293_294insAFrame shifting insertionExon 4Renal impairmentGerman Errikson (2009) J Mol Diagn. 11(3):257
Leu75Pro (p.Leu99Pro) c.296T>CCTG>CCGExon 4Hepatomegaly, Renal impairmentItalian Other Coriu (2003) Amyloid 10, 215
Leu90Pro (p.Leu114Pro) c.342T>CCTG>CCGExon 4Skin lesions, cardiomyopathy, dysphoniaFrench Hamidi Asl (1999) Am J Pathol 154, 221
Lys107del (p.Lys131del) c.391_393deldelAAGExon 4Angina associated with amyloid in aortic intimaScandinavian Amarzguioui (1998), Biochemical and Biophysical Research Communications
Ala154Glyfs*48 (p.Ala154Glyfs*48) c.532_533dupGCFrame shifting duplicationExon 4Renal impairment, polyneuropathyGerman Errikson (2009) J Mol Diagn. 11(3):257
His155Metfs*46 (p.His179Metfs*46) c.535delCFrame shifting deletionExon 4Renal impairment, polyneuropathyBritish Rowczenio (2011) Am J Pathol. 179(4):1978
Ala164Ser (p.Ala188Ser) c.562G>TGCC>TCCExon 4pathogenicity unclearCaucasian Unpublished
Leu170Pro (p.Leu194Pro) c.581T>CCTG>CCGExon 4Asymptomatic (normal organ function)German Errikson (2009) J Mol Diagn. 11(3):257
Gln172Pro (p.Gln196Pro) c.587_588delinsCCCAG>CCCExon 4Likely amyloidogenicCaucasian Unpublished
Arg173Pro (p.Arg197Pro) c.590G>CCGC>CCCExon 4Skin lesions, dysphonia, cardiomyopathy American, British Hamidi Asl (1999) Biochem Biophys Res Commun 257, 584
Leu174Ser (p.Leu198Ser) c.593T>CTTG>TCGExon 4Infertility, cardiomyopathy, bilateral carpal tunnel syndrome, polyneuropathyItalian, Dutch Obici (1999) Am J Pathol 155, 695
Ala175Pro (p.Ala199Pro) c.595G>CGCC>CCCExon 4Dysphonia, InfertilityBritish Rowczenio (2011) Am J Pathol. 179(4):1978
Leu178His (p.Leu202His) c.605T>ACTT>CATExon 4Dysphonia, cardiomyopathyFrench de Sousa (2000) Am J Pathol 156, 1911