Transthyretin Leu 68 in a form of cardiac amyloidosis.
A form of transthyretin (TTR)-related cardiac amyloidosis was previously described in a German patient. Electrophoretic analysis of plasma TTR showed the presence of an electrically neutral variant. We have now characterized the variant transthyretin by comparative peptide mapping, aminoacid and DNA sequencing procedures. A new mutation in TTR with a substitution of leucine for isoleucine at position 68 of the monomer is described.
Almeida
M R
MR
Centro de Estudos de Paramiloidose, Universidade do Porto, Portugal.
Hesse
A
A
Steinmetz
A
A
Maisch
B
B
Altland
K
K
Linke
R P
RP
Gawinowicz
M A
MA
Saraiva
M J
MJ
D000595:Amino Acid Sequence; D000686:Amyloidosis / Q000097:blood*; D009202:Cardiomyopathies / Q000097:blood*; D015342:DNA Probes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010449:Peptide Mapping; D011228:Prealbumin / Q000032:analysis / Q000235:genetics*
D015342:DNA Probes; D011228:Prealbumin