TTR FGA APOA1 APOA2 LYZ GSN B2M Cystatin Home Back

 

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 syndromeSwedish Girnius (2012) Amyloid; 19(4):182-5
Ile56Thr (p.Ile74Thr) c.221T>CATA>ACA Exon 2Renal failure, Petechiae British Pepys (1993) Nature 362, 553
Phe57Ile (p.Phe75Ile) c.223T>ATTT>ATT Exon 2Renal failureItalian Canadian Yazaki (2003) Kidney Int 63, 1652
Trp64Arg (p.Trp82Arg) c.244T>CTGG>CGG Exon 2Renal failure, GI tract involvement Sicca syndromeFrench Valleix (2002) Kidney Int 61, 907
Trp64Arg (p.Trp82Arg) c.244T>ATGG>AGG Exon 2Spontaneous hepatic hemorrhageItalian Granel (2014) Amyloid; 21(1):66-8.
Asp67His (p.Asp85His) c.253G>CGAT>CAT Exon 2Renal failure,GI tract involvement, Liver, Spleen,Sicca syndromeBritish Pepys (1993) Nature 362, 553
Asp67Gly (p.Asp85Gly) c.254A>GGAT>GGTExon 2Renal failure, 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 4GI tract involvement, Liver, Spleen, Renal failureGerman Rocken(2005) Hum Mutat. 2006 (1), 119