A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.

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Citation

Connors LH, Theberge R, Skare J, Costello CE, Falk RH, Skinner M

A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.

Amyloid. 1999 Jun;6(2):114-8.

PubMed ID
10439117 [ View in PubMed
]
Abstract

The detection and characterization of a new transthyretin (ATTR) variant, Ser23Asn, associated with cardiomyopathy in a Portuguese patient with familial amyloidosis is described. Isoelectric focusing (IEF) of serum from the propositus demonstrated heterozygosity for the presence of wild type and variant ATTR. A combination of mass spectrometric (MS) analyses, including electrospray ionization mass spectrometry (ESI MS), high performance liquid chromatography (HPLC)/ESI MS and matrix-assisted laser desorption/ionization mass spectrometry (MALDI MS) performed on the serum-derived TTR were used to identify and locate the amino acid replacement in the variant protein. Genetic mutation analysis by DNA sequencing and allele-specific PCR confirmed this finding.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
TransthyretinP02766Details