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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15661: Variant p.Arg216Gln

Tryptase alpha/beta-1
Gene: TPSAB1
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Variant information Variant position: help 216
Type of variant: help LB/B
Residue change: help From Arginine (R) to Glutamine (Q) at position 216 (R216Q, p.Arg216Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Polymorphism: help There are two alleles alpha and beta-I. The sequence shown is that of allele beta-I.
Other resources: help


Sequence information Variant position: help 216
Protein sequence length: help 275
Location on the sequence: help AYTGDDVRIVRDDMLCAGNT R RDSCQGDSGGPLVCKVNGTW
Residue conservation: help 
Human                         AYTGDDVRIVRDDMLCAGNTRRDSCQGDSGGPLVCKVNGTW

Mouse                         LITGDNVHIVRDDMLCAGNEGHDSCQGDSGGPLVCKVEDTW

Rat                           LNTGDNVHIVRDDMLCAGNEGHDSCQGDSGGPLVCKVEDTW
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 31 – 275 Tryptase alpha/beta-1
Domain 31 – 272 Peptidase S1
Active site 224 – 224 Charge relay system
Glycosylation 233 – 233 N-linked (GlcNAc...) asparagine
Disulfide bond 155 – 230
Beta strand 215 – 218



Literature citations
Cloning and characterization of complementary DNA for human tryptase.
Miller J.S.; Westin E.H.; Schwartz L.B.;
J. Clin. Invest. 84:1188-1195(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS THR-85; SER-215; GLN-216 AND LYS-221; Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.
Trivedi N.N.; Tamraz B.; Chu C.; Kwok P.Y.; Caughey G.H.;
J. Allergy Clin. Immunol. 124:1099-1105(2009)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS PRO-15; SER-170; SER-215; GLN-216 AND LYS-221; Characterization of two highly polymorphic human tryptase loci and comparison with a newly discovered monkey tryptase ortholog.
Guida M.; Riedy M.; Lee D.; Hall J.;
Pharmacogenetics 10:389-396(2000)
Cited for: VARIANTS PRO-15; VAL-18; VAL-23; THR-85; LYS-132; ALA-141; ASN-162; SER-170; SER-215; GLN-216; LYS-221 AND ASN-263;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.