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. |