UniProtKB/Swiss-Prot Q9BZJ3: Variant p.Val83Met

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 83 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 Valine (V) to Methionine (M) at position 83 (V83M, p.Val83Met). 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: Similar physico-chemical property. Both residues are medium size and hydrophobic. 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
Other resources: Links to websites of interest for the variant.

• Variant rs1141967 [ dbSNP | Ensembl ]

Sequence information

Variant position: 83 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 242 The length of the canonical sequence.
Location on the sequence: MHFCGGSLIHPQWVLTAAHC V EPDIKDLAALRVQLREQHLY 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.
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	38 – 242	Tryptase delta
Domain	38 – 242	Peptidase S1
Active site	81 – 81	Charge relay system

Literature citations

Characterization of genes encoding known and novel human mast cell tryptases on chromosome 16p13.3.
Pallaoro M.; Fejzo M.S.; Shayesteh L.; Blount J.L.; Caughey G.H.;
J. Biol. Chem. 274:3355-3362(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-22 AND MET-83; Alternate mRNA splicing in multiple human tryptase genes is predicted to regulate tetramer formation.
Jackson N.E.; Wang H.W.; Bryant K.J.; McNeil H.P.; Husain A.; Liu K.; Tedla N.; Thomas P.S.; King G.C.; Hettiaratchi A.; Cairns J.; Hunt J.E.;
J. Biol. Chem. 283:34178-34187(2008)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 40-178 (ISOFORM 2); VARIANT MET-83; Delta tryptase is expressed in multiple human tissues, and a recombinant form has proteolytic activity.
Wang H.-W.; McNeil H.P.; Husain A.; Liu K.; Tedla N.; Thomas P.S.; Raftery M.; King G.C.; Cai Z.Y.; Hunt J.E.;
J. Immunol. 169:5145-5152(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 53-242 (ISOFORM 1); ENZYME ACTIVITY; TISSUE SPECIFICITY; VARIANT MET-83;