Mutations in Hereditary Amyloidosis
Mutations in Fibrinogen alpha chain Gene (FGA)
| Name (Protein Variant incl. 19-aa signal peptide) | Sequence Variant (mRNA) | Codon Change | Location | Reported Phenotype | Ethnic Group | References |
|---|---|---|---|---|---|---|
| Met517_Phe521delinsGlnSerfs*28 (p.Met536_Phe540delinsGlnSerfs*28) | c.1606_1620 delATGTTAGGA GAGTTT insCA | Frame shifting mutation | 5' end of exon5 | Renal failure | Korean | Gyung Kang (2005) Kidney Int 68, 1994 |
| Gly519Arg (p.Gly538Arg) | c. 1612G>A | GGA>AGA | 5' end of exon5 | non-amyloidogenic | British | New mutation - Unpublished data |
| Gly519Glu (p.Gly538Glu) | c. 1613G>A | GGA>GAA | 5' end of exon5 | non-amyloidogenic | British | New mutation - Unpublished data |
| Gly519Glufs*30 (p.Gly538Glufs*30) | c.1611delA | Frame shifting mutation | 5'end of exon5 | Renal failure | French | Rowczenio (2017) Kidney International Reports 2(3);461 |
| Phe521Leufs*28 (p.Phe540Leufs*28) | c.1620delT | Frame shifting mutation | 5' end of exon5 | Renal failure | French | Valleix (2010) XII International Symposium on Amyloidosis |
| Phe521Serfs*27 (p.Phe540Serfs*27) | c.1619_1622delTTGT | Frame shifting mutation | 5' end of exon5 | Renal failure | Arab | Rowczenio (2017) Kidney International Reports 2(3);461 |
| Val522Alafs*27 (p.Val541Alafs*27) | c.1622delT | Frame shifting mutation | 5' end of exon5 | Renal failure | French | Asl (1997) Blood 90, 4799 |
| Glu524Glufs*25 (p.Glu543Glufs*25) | c.1629delG | Frame shifting mutation | 5' end of exon5 | Renal failure | American | Uemichi (1996) Blood 87, 4197 |
| Glu524Lys (p.Glu543Lys) | c.1627G>A | GAG>AAG | 5' end of exon5 | Renal failure | Caucasian | Rowczenio (2017) Kidney International Reports 2(3);461 |
| Thr525Thrfs*24 (p.Thr544Thrfs*24) | c.1632delT | Frame shifting mutation | 5' end of exon5 | Renal failure | Chinese | Gillmore (2009), J Am Soc Nephrol. 20(2):444-51 |
| Glu526Lys (p.Glu545Lys) | c.1633G>A | GAG>AAG | 5' end of exon5 | Renal failure | Russian | Rowczenio (2017) Kidney International Reports 2(3);461 |
| Glu526Val (p.Glu545Val) | c.1634A>T | GAG>GTG | 5' end of exon5 | Renal failure | Northern European | Uemichi (1994) J Clin Invest 93, 731 |
| Thr538Lys (p.Thr557Lys) | c.1670C>A | ACA>AAA | 5' end of exon5 | Renal failure | Chinese | Gillmore (2009), J Am Soc Nephrol. 20(2):444-51 |
| Glu540Val (p.Glu559Val) | c.1676A>T | GAA>GTA | 5' end of exon5 | Renal failure | German | Gillmore (2009), J Am Soc Nephrol. 20(2):444-51 |
| Pro552His (p.Pro571His) | c.1712C>A | CCT>CAT | 5' end of exon5 | Renal failure | Afro-Carribean | Gillmore (2009), J Am Soc Nephrol. 20(2):444-51 |
| Arg554Leu (p.Arg573Leu) | c.1718G>T | CGT>CTT | 5' end of exon5 | Renal failure | Peruvian, African American | Benson (1993) Nat Genet 3, 252 |
| Arg554His (p.Arg573His) | c.1718G>A | CGT>CAT | 5' end of exon5 | non-amyloidogenic | British | Rowczenio (2017) Kidney International Reports 2(3);461 |
| Gly555Phe (p.Gly574Phe) | c.1720_1721delinsTT | GGT>TTT | 5' end of exon5 | Renal failure | Norwegian | Rowczenio (2017) Kidney International Reports 2(3);461 |