Identification and characterization of a human transthyretin variant.
An apparent Mr variant of plasma transthyretin (TTR), previously detected using 2-D PAGE, is the first reported occurrence of this type of human TTR variant. We characterized the variant TTR to determine the nature of this difference. Comparative tryptic peptide maps of variant and normal TTR and sequencing of peptides which differed indicated the variant contained a single amino acid substitution of valine for tyrosine at position 116. Because such a change requires two nucleotide substitutions, we postulate the variant arose through mutation in codon 116 of a heretofore unrecognized polymorphic or rare variant allele of TTR.
Strahler
J R
JR
Department of Pediatrics, University of Michigan, Ann Arbor 48109.
Rosenblum
B B
BB
Hanash
S M
SM
D000595:Amino Acid Sequence; D002851:Chromatography, High Pressure Liquid; D004591:Electrophoresis, Polyacrylamide Gel; D014644:Genetic Variation; D006801:Humans; D010449:Peptide Mapping; D011228:Prealbumin / Q000235:genetics* / Q000302:isolation & purification; D014357:Trypsin
D011228:Prealbumin; D014357:Trypsin