Mutations in Hereditary Amyloidosis

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Mutations in Lysozyme Gene (LYZ)

Name (Protein Variant incl. 18-aa signal peptide) Sequence Variant (mRNA) Codon Change Location Reported Phenotype Ethnic Group References
Tyr54Asn (p.Tyr72Asn) c.214T>ATAT>AATExon 2GI tract involvement, Sicca syndrome, Cardiac manifestations Swedish Girnius (2012) Amyloid; 19(4):182-5
Ile56Thr (p.Ile74Thr) c.221T>CATA>ACA Exon 2Renal dysfunction, Petechiae British Pepys (1993) Nature 362, 553
Phe57Ile (p.Phe75Ile) c.223T>ATTT>ATT Exon 2Renal dysfunctionItalian Canadian Yazaki (2003) Kidney Int 63, 1652
Trp64Arg (p.Trp82Arg) c.244T>CTGG>CGG Exon 2Renal dysfunction, GI tract involvement Sicca syndromeFrench Valleix (2002) Kidney Int 61, 907
Trp64Arg (p.Trp82Arg) c.244T>ATGG>AGG Exon 2Spontaneous hepatic hemorrhage, GI tract involvementItalian Granel (2014) Amyloid; 21(1):66-8.
Asp67His (p.Asp85His) c.253G>CGAT>CAT Exon 2Renal dysfunction,GI tract involvement, Liver hematoma and rupture, Sicca syndromeBritish Pepys (1993) Nature 362, 553
Asp67Gly (p.Asp85Gly) c.254A>GGAT>GGTExon 2Renal dysfunction, Sicca syndromeRomanian Wooliver (2006) XI International Symposium
Thr70Asn (p.Thr88Asn) c.263C>AACC>AACExon 2Non-amyloidogenicCaucasian Booth (2000) Hum Mutat. (2),180
Trp112Arg (p.Trp130Arg) c.388T>CTGG>CGGExon 4Renal dysfunction, GI tract involvement, Liver dysfunction, Cardiac involvement, German Rocken(2005) Hum Mutat. 2006 (1), 119
Leu84Ser (p.Leu102Ser) c.305T>CTTG>TCGExon 3Renal dysfunction, GI tract involvement, Peripheral neuropathy, Cardiac involvementAmerican with mixed heritage Nasr (2017), J Am Soc Nephrol. 28(2):431-438.