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TPSAB1

Synonyms
TPS1, TPS2, TPSB1, TPSB2, Tryptase-2
External resources
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
36
Likely pathogenic
0
VUS
20,586
Likely benign
538
Benign
0

Patient phenotypes

Proportions of phenotypes among 30 patients carring pathogenic or likely pathogenic variants on TPSAB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30%
Abnormality of the cardiovascular system
26.7%
Abnormality of head or neck
20%
Abnormality of the eye
16.7%
Abnormality of the musculoskeletal system
16.7%
Abnormality of the ear
13.3%
Abnormality of the integument
13.3%
Abnormality of the digestive system
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
6.7%
Abnormal cellular phenotype
3.3%
Abnormality of prenatal development or birth
3.3%
Abnormality of the respiratory system
3.3%
Neoplasm
3.3%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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