UniProtKB/Swiss-Prot Q15661: Variant p.Arg216Gln

Tryptase alpha/beta-1
Gene: TPSAB1
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Variant information Variant position:

216 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Glutamine (Q) at position 216 (R216Q, p.Arg216Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

There are two alleles alpha and beta-I. The sequence shown is that of allele beta-I. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs2234906 [ dbSNP | Ensembl ]

Sequence information Variant position:

216 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

275 The length of the canonical sequence.
Location on the sequence:

AYTGDDVRIVRDDMLCAGNT R RDSCQGDSGGPLVCKVNGTW The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         AYTGDDVRIVRDDMLCAGNTRRDSCQGDSGGPLVCKVNGTW

Mouse                         LITGDNVHIVRDDMLCAGNEGHDSCQGDSGGPLVCKVEDTW

Rat                           LNTGDNVHIVRDDMLCAGNEGHDSCQGDSGGPLVCKVEDTW

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
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.