TPSAB1

tryptase alpha/beta 1

Summary

Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]

Known Variants57 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77754309616:1,290,321G/A——
rs74884398116:1,290,835C/A—benign
rs254875797116:1,290,944T/A—uncertain significance
rs76946891616:1,290,963G/A—likely benign
rs132837268716:1,290,977C/A—uncertain significance
rs76021316:1,291,075T/C—benign
rs180098516:1,291,114C/G—benign
rs37265458416:1,291,127C/T—benign
rs14622368716:1,291,175G/A—benign
rs55038442816:1,291,186G/T—uncertain significance
rs78105373216:1,291,190G/A—uncertain significance
rs53936525716:1,291,238G/C—uncertain significance
rs180098916:1,291,245C/T—benign
rs95179169616:1,291,261C/T—uncertain significance
rs75872960516:1,291,288C/T—uncertain significance
rs20156897016:1,291,308A/G—benign
rs15132482316:1,291,318G/A—uncertain significance
rs78014543916:1,291,322G/A—uncertain significance
rs20084329516:1,291,337G/A—benign
rs11284260216:1,291,355G/C—benign
rs20135174416:1,291,454G/A—benign
rs76823474016:1,291,473G/A—uncertain significance
rs156757349416:1,291,485T/C—uncertain significance
rs19962516916:1,291,545C/T—uncertain significance
rs77612500316:1,291,547G/A—uncertain significance
rs20204428816:1,291,554T/C—likely benign
rs137800906616:1,291,557G/A—uncertain significance
rs14497926416:1,291,597C/G—benign
rs14911301316:1,291,622A/G—benign
rs78057343316:1,291,637T/A—uncertain significance
rs14321082516:1,291,685G/A—benign
rs20215691916:1,291,831G/A—uncertain significance
rs76855363116:1,291,840C/T—uncertain significance
rs121776575516:1,291,875A/G—likely benign
rs203066778416:1,291,917T/G—uncertain significance
rs122699894916:1,291,924G/A—uncertain significance
rs223490516:1,291,972C/G—benign
rs223490616:1,291,975G/A—benign
rs76196508516:1,291,985A/C—benign
rs20119243516:1,291,989C/A—benign
rs223464516:1,292,003C/G—benign
rs121895890416:1,292,012G/C—benign
rs74949318716:1,292,019G/C—benign
rs7138025416:1,292,021C/A—benign
rs74811023016:1,292,026A/C—benign
rs11293510916:1,292,028C/T—benign
rs75913682716:1,292,039A/G—benign
rs75185221116:1,292,042C/T—benign
rs223466116:1,292,051C/T—benign
rs56626032416:1,292,079C/A—likely benign
rs113738316:1,292,085C/T—benign
rs14470110216:1,292,124G/A—benign
rs14540204016:1,292,147G/A—benign
rs203068336116:1,292,156G/A—uncertain significance
rs55834676616:1,292,238G/A—likely benign
rs106031416:1,292,254G/T—benign
rs1713522016:1,292,257G/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.