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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 insCAFrame shifting mutation5' end of exon5Renal failure Korean Gyung Kang (2005) Kidney Int 68, 1994
Gly519Arg (p.Gly538Arg) c. 1612G>AGGA>AGA5' end of exon5non-amyloidogenicBritish New mutation - Unpublished data
Gly519Glu (p.Gly538Glu) c. 1613G>AGGA>GAA5' end of exon5non-amyloidogenicBritish New mutation - Unpublished data
Phe521Serfs*27 (p.Phe540Serfs*27) c.1619_1622delTTGTFrame shifting mutation5' end of exon5Renal failureArab Unpublished
Val522Alafs*27 (p.Val541Alafs*27) c.1622delTFrame shifting mutation5' end of exon5Renal failureFrench Asl (1997) Blood 90, 4799
Glu524Glufs*25 (p.Glu543Glufs*25) c.1629delGFrame shifting mutation5' end of exon5Renal failureAmerican Uemichi (1996) Blood 87, 4197
Glu524Lys (p.Glu543Lys) c.1627G>A GAG>AAG5' end of exon5Renal failureCaucasian Unpublished
Thr525Thrfs*24 (p.Thr544Thrfs*24) c.1632delTFrame shifting mutation5' end of exon5Renal failureChinese Gillmore (2009), J Am Soc Nephrol. 20(2):444-51
Glu526Lys (p.Glu545Lys) c.1633G>AGAG>AAG5' end of exon5Renal failureRussian New mutation - Unpublished data
Glu526Val (p.Glu545Val) c.1634A>TGAG>GTG5' end of exon5Renal failureNorthern European Uemichi (1994) J Clin Invest 93, 731
Thr538Lys (p.Thr557Lys) c.1670C>AACA>AAA5' end of exon5Renal failureChinese Gillmore (2009), J Am Soc Nephrol. 20(2):444-51
Glu540Val (p.Glu559Val) c.1676A>TGAA>GTA5' end of exon5Renal failureGerman Gillmore (2009), J Am Soc Nephrol. 20(2):444-51
Pro552His (p.Pro571His) c.1712C>ACCT>CAT5' end of exon5Renal failureAfro-Carribean Gillmore (2009), J Am Soc Nephrol. 20(2):444-51
Arg554Leu (p.Arg573Leu) c.1718G>TCGT>CTT5' end of exon5Renal failurePeruvian, African American Benson (1993) Nat Genet 3, 252
Gly555Phe (p.Gly574Phe) c.1720_1721delinsTTGGT>TTT5' end of exon5Renal failureNorwegian Unpublished