Mutations in Hereditary Amyloidosis
Mutations in Apolipoprotein A-II Gene (APOA2)
| Name (Protein Variant incl. 18-aa signal peptide and 5-aa propeptide) | Sequence Variant(mRNA) | Codon Change | Location | Reported Phenotype | Ethnic Group | References |
|---|---|---|---|---|---|---|
| *78Argext*21 (p.*101Argext*21) | c.296T>A | TGA>AGA | Exon 4 | Renal failure | Spanish | De Gracia (2006) QJM 99, 274 |
| *78Argext*21 (p.*101Argext*21) | c.296T>C | TGA>CGA | Exon 4 | Renal failure | Armenian | Yazaki (2003) Kidney Int 64, 11 |
| *78Serext*21 (p.*101Serext*21) | c.296T>G | TGA>GGA | Exon 4 | Renal failure | American | Benson (2001) Genomics 72, 272 |
| *78Glyext*21 (p.*101Glyext*21) | c.297G>C | TGA>TCA | Exon 4 | Renal failure | Caucasian | Yazaki (2001) Kidney Int 60, 1658 |