title: A consolidated catalogue and graphical annotation of dbSNP polymorphisms in the human tissue kallikrein (KLK) locus.
abstract: The human tissue kallikreins, 15 secreted serine proteases, may play diverse roles in pathophysiology. The National Center for Biotechnology Information's dbSNP was mined for polymorphisms located within the kallikrein (KLK) locus using custom-designed "ParSNPs" and "LocusAnnotator" software tools. Using "ParSNPs", a filterable catalogue of 1856 KLK polymorphisms (1023 validated) was generated. "LocusAnnotator" was used to annotate the KLK locus sequence with gene and polymorphism features. A second locus was examined to validate the use of both programs on a non-kallikrein locus. This report may assist in the informed selection of KLK polymorphisms for future association and biochemical studies in relation to disease. Furthermore, "ParSNPs" and "LocusAnnotator" are available at no cost from our website (www.acdcLab.org/annotations) to examine other loci.
authors.affiliation: Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Carolyn A
authors.initials: CA
authors.lastname: Goard
authors.forename: Irvin L
authors.initials: IL
authors.lastname: Bromberg
authors.forename: Marc B
authors.initials: MB
authors.lastname: Elliott
authors.forename: Eleftherios P
authors.initials: EP
authors.lastname: Diamandis
mesh_terms: D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D018387:Codon, Initiator; D018388:Codon, Terminator; D030541:Databases, Genetic; D005091:Exons; D006801:Humans; D007438:Introns; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000235:genetics; D015203:Reproducibility of Results; D012984:Software; D016385:TATA Box; D020840:Tissue Kallikreins / Q000235:genetics*
chemical_list: D018387:Codon, Initiator; D018388:Codon, Terminator; D012333:RNA, Messenger; D020840:Tissue Kallikreins