Mutations in Hereditary Amyloidosis
Mutations in Gelsolin Gene (GSN)
| Name (Protein Variant incl. 27-aa signal peptide) | Sequence Variant (mRNA) | Codon Change | Location | Reported Phenotype | Ethnic Group | References |
|---|---|---|---|---|---|---|
| Gly167Arg (p.Gly194Arg) | c.580G>A | GGG>AGG | Exon 4 | Renal impairment | American | Sethi (2013) Am J Kidney Dis;61(1):161-6. |
| Asn184Lys (p.Asn211Lys) | c.633C>A | AAC>AAA | Exon 4 | Renal impairment | American | Efebera (2014) Amyloid |
| Asp187Asn (p.Asp214Asn) | c.640G>A | GAC>AAC | Exon 4 | Cranial neuropathy, Corneal lattice dystrophy, Skin changes | Finish, American, Dutch, Danish, Iranian, Japanese | Maury (1990) FEBS Lett 276, 75 |
| Asp187Tyr (p.Asp214Tyr) | c.640G>T | GAC>TAC | Exon 4 | Cranial neuropathy, Corneal lattice dystrophy, Skin changes | Czech, Danish | de la Chapelle (1992) Nat Genet 2, 157 |