Characterization of a basic transthyretin variant--TTR Arg 102--in the German population.
A basic transthyretin (TTR) variant, apparently non-pathogenic, has been reported in a German family. Protein analysis of this TTR variant revealed the substitution of arginine for proline at position 102 of the TTR polypeptide chain. This result was confirmed by DNA analysis of PCR amplified DNA.
Centro de Estudos de Paramiloidose, Porto, Portugal.
M R
MR
Almeida
K
K
Altland
S
S
Rauh
M
M
Gawinowicz
P
P
Moreira
P P
PP
Costa
M J
MJ
Saraiva
D000686:Amyloidosis / Q000235:genetics; D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation; D005858:Germany; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010449:Peptide Mapping; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011228:Prealbumin / Q000235:genetics*; D011247:Pregnancy; D011392:Proline / Q000235:genetics
D011228:Prealbumin; D001120:Arginine; D011392:Proline