A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto).
Apolipoprotein CII Toronto is a mutant non-functional apo CII resulting in apo CII deficiency. A portion of the mutant apo CII gene was cloned into lambda gt10 and subclones were sequenced. A deletion of one base was found in the codon for amino acid Thr68, resulting in alteration of six amino acids and premature termination of the protein at amino acid 74.
Cox
D W
DW
Research Institute, Hospital for Sick Children, Toronto, Canada.
Wills
D E
DE
Quan
F
F
Ray
P N
PN
D000595:Amino Acid Sequence; D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000172:deficiency / Q000235:genetics*; D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000097:blood / Q000235:genetics; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; D004247:DNA