Mutations in Hereditary Amyloidosis

Name (Protein Variant incl. 18-aa signal peptide)	Sequence Variant (mRNA)	Codon Change	Location	Reported Phenotype	Ethnic Group	References
Tyr54Asn (p.Tyr72Asn)	c.214T>A	TAT>AAT	Exon 2	GI tract involvement, Sicca syndrome, Cardiac manifestations	Swedish	Girnius (2012) Amyloid; 19(4):182-5
Ile56Thr (p.Ile74Thr)	c.221T>C	ATA>ACA	Exon 2	Renal dysfunction, Petechiae	British	Pepys (1993) Nature 362, 553
Phe57Ile (p.Phe75Ile)	c.223T>A	TTT>ATT	Exon 2	Renal dysfunction	Italian Canadian	Yazaki (2003) Kidney Int 63, 1652
Trp64Arg (p.Trp82Arg)	c.244T>C	TGG>CGG	Exon 2	Renal dysfunction, GI tract involvement Sicca syndrome	French	Valleix (2002) Kidney Int 61, 907
Trp64Arg (p.Trp82Arg)	c.244T>A	TGG>AGG	Exon 2	Spontaneous hepatic hemorrhage, GI tract involvement	Italian	Granel (2014) Amyloid; 21(1):66-8.
Asp67His (p.Asp85His)	c.253G>C	GAT>CAT	Exon 2	Renal dysfunction,GI tract involvement, Liver hematoma and rupture, Sicca syndrome	British	Pepys (1993) Nature 362, 553
Asp67Gly (p.Asp85Gly)	c.254A>G	GAT>GGT	Exon 2	Renal dysfunction, Sicca syndrome	Romanian	Wooliver (2006) XI International Symposium
Thr70Asn (p.Thr88Asn)	c.263C>A	ACC>AAC	Exon 2	Non-amyloidogenic	Caucasian	Booth (2000) Hum Mutat. (2),180
Trp112Arg (p.Trp130Arg)	c.388T>C	TGG>CGG	Exon 4	Renal dysfunction, GI tract involvement, Liver dysfunction, Cardiac involvement,	German	Rocken(2005) Hum Mutat. 2006 (1), 119
Leu84Ser (p.Leu102Ser)	c.305T>C	TTG>TCG	Exon 3	Renal dysfunction, GI tract involvement, Peripheral neuropathy, Cardiac involvement	American with mixed heritage	Nasr (2017), J Am Soc Nephrol. 28(2):431-438.