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Literature summary for 3.4.21.59 extracted from

  • Trivedi, N.N.; Tamraz, B.; Chu, C.; Kwok, P.Y.; Caughey, G.H.
    Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations (2009), J. Allergy Clin. Immunol., 124, 1099-105.
    View publication on PubMedView publication on EuropePMC
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Protein Variants

Protein Variants Comment Organism
G215D the mutation distorts the substrate binding site and limits peptidase activity Homo sapiens
additional information dysfunctional tryptase alleles are always coinherited with functional alleles Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P20231
-
-
Homo sapiens Q15661
-
-

Source Tissue

Source Tissue Comment Organism Textmining
HMC-1 cell
-
 Homo sapiens
-
LAD-2 cell
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
alpha tryptase
-
 Homo sapiens
Mast cell tryptase
-
 Homo sapiens
tryptase beta-2
-
 Homo sapiens