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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.

SUBMITTER: Goard CA

PROVIDER: S-EPMC5543866 | biostudies-literature | 2007 Dec

REPOSITORIES: biostudies-literature

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A consolidated catalogue and graphical annotation of dbSNP polymorphisms in the human tissue kallikrein (KLK) locus.

Goard Carolyn A CA Bromberg Irvin L IL Elliott Marc B MB Diamandis Eleftherios P EP

Molecular oncology 20070915 3

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 se ...[more]

PMID: 19383304

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