Alpha-1-antichymotrypsin variant detected by PCR-single strand conformation polymorphism (PCR-SSCP) and direct sequencing.
A new mutant alpha-1-antichymotrypsin (variant ACT) was found by polymerase chain reaction single strand conformation polymorphism and direct sequencing. In this variant ACT, two bases (AA) were deleted from codon 391. This resulted in a different amino acid sequence downstream of the deletion point, elongating the peptide chain by 10 amino acids.
Tsuda
M
M
Department of Molecular Life Science, Tokai University, School of Medicine, Kanagawa, Japan.
Sei
Y
Y
Matsumoto
M
M
Kamiguchi
H
H
Yamamoto
M
M
Shinohara
Y
Y
Igarashi
T
T
Yamamura
M
M
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D017384:Sequence Deletion; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
D000514:alpha 1-Antichymotrypsin; D004247:DNA