UniProtKB/Swiss-Prot P10144: Variant p.Arg55Gln

Granzyme B
Gene: GZMB
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Variant information Variant position:

55 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 55 (R55Q, p.Arg55Gln). 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
Other resources:

Links to websites of interest for the variant.

Variant rs8192917 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MAYLMIWDQKSLKRCGGFLI R DDFVLTAAHCWGSSINVTLG 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                         MAYLMIWDQKS-LKRCGGFLIRDDFVLTAAHCWGSSINVTLG

Mouse                         MALLSIKDQQP-EAICGGFLIREDFVLTAAHCEGSIINVTL

Rat                           MAYLQIMDEYSGSKKCGGFLIREDFVLTAAHCSGSKINVTL

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	21 – 247	Granzyme B
Domain	21 – 245	Peptidase S1
Active site	64 – 64	Charge relay system
Glycosylation	71 – 71	N-linked (GlcNAc...) asparagine
Disulfide bond	49 – 65
Beta strand	46 – 55

Literature citations
Induction of mRNA for a serine protease and a beta-thromboglobulin-like protein in mitogen-stimulated human leukocytes.
Schmid J.; Weissmann C.;
J. Immunol. 139:250-256(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLN-55; Molecular cloning of an inducible serine esterase gene from human cytotoxic lymphocytes.
Trapani J.A.; Klein J.L.; White P.C.; Dupont B.;
Proc. Natl. Acad. Sci. U.S.A. 85:6924-6928(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLN-55; Genomic organization and chromosomal assignment for a serine protease gene (CSPB) expressed by human cytotoxic lymphocytes.
Klein J.L.; Shows T.B.; Dupont B.; Trapani J.A.;
Genomics 5:110-117(1989)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-55; Nucleotide sequence and genomic organization of a human T lymphocyte serine protease gene.
Caputo A.; Sauer D.E.; Rowe P.B.;
J. Immunol. 145:737-744(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-55; Structural organization of the hCTLA-1 gene encoding human granzyme B.
Haddad P.; Clement M.-V.; Bernard O.; Larsen C.-J.; Degos L.; Sasportes M.; Mathieu-Mahul D.;
Gene 87:265-271(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-55 AND ALA-94; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLN-55 AND HIS-247; Catalog of 680 variations among eight cytochrome p450 (CYP) genes, nine esterase genes, and two other genes in the Japanese population.
Saito S.; Iida A.; Sekine A.; Kawauchi S.; Higuchi S.; Ogawa C.; Nakamura Y.;
J. Hum. Genet. 48:249-270(2003)
Cited for: VARIANTS GLN-55 AND HIS-247;

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.