A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.
A nonsense mutation at amino acid residue 184 in the human peptidase D (PEPD) gene caused the production of a truncated polypeptide. Characterizing molecular defects in patients provides clues to elucidate the relationship between the phenotype and the genotype.
Kikuchi
S
S
Department of Molecular and Cellular Pharmacology, National Children's Medical Research Center, Tokyo, Japan.
Tanoue
A
A
Endo
F
F
Wakasugi
S
S
Matsuo
N
N
Tsujimoto
G
G
D000595:Amino Acid Sequence; D001483:Base Sequence; D015153:Blotting, Western; D002478:Cells, Cultured; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004150:Dipeptidases / Q000172:deficiency / Q000235:genetics*; D005347:Fibroblasts / Q000201:enzymology; D005838:Genotype; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction
D018389:Codon, Nonsense; D004150:Dipeptidases; C022449:proline dipeptidase