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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.301T>ATGA>AGAExon 4Renal failureSpanish De Gracia (2006) QJM 99, 274
*78Argext*21 (p.*101Argext*21) c.301T>CTGA>CGAExon 4Renal failureArmenian Yazaki (2003) Kidney Int 64, 11
*78Serext*21 (p.*101Serext*21) c.301T>GTGA>GGAExon 4Renal failureAmerican Benson (2001) Genomics 72, 272
*78Glyext*21 (p.*101Glyext*21) c.302G>CTGA>TCA Exon 4Renal failureCaucasian Yazaki (2001) Kidney Int 60, 1658