title: A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level.
abstract: A polymorphism in the coding region of the human cystatin D gene has been detected by direct sequencing of amplified DNA from different individuals. The variation, resulting from a T/C transition in exon 1 of the gene, causes an amino acid variation, Cys/Arg, at the protein level. An allele-specific oligonucleotide hybridization assay was developed and used to demonstrate this polymorphism in the population. the deduced frequencies were 0.55 and 0.45 for the Cys and Arg variant-encoding alleles, respectively.
authors.affiliation: Department of Clinical Chemistry, University of Lund, University Hospital, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Balbín
authors.forename: J P
authors.initials: JP
authors.lastname: Freije
authors.forename: M
authors.initials: M
authors.lastname: Abrahamson
authors.forename: G
authors.initials: G
authors.lastname: Velasco
authors.forename: A
authors.initials: A
authors.lastname: Grubb
authors.forename: C
authors.initials: C
authors.lastname: López-Otín
mesh_terms: D000595:Amino Acid Sequence; D001120:Arginine / Q000235:genetics; D001483:Base Sequence; D015891:Cystatins / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D011110:Polymorphism, Genetic
chemical_list: D015891:Cystatins; D015345:Oligonucleotide Probes; C071378:CST5 protein, human; D001120:Arginine; D003545:Cysteine