UniProtKB/Swiss-Prot P12544: Variant p.Met121Thr

Granzyme A
Gene: GZMA
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Variant information Variant position:

121 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 Methionine (M) to Threonine (T) at position 121 (M121T, p.Met121Thr). 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 medium size and hydrophobic (M) to medium size and polar (T) 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 rs3104233 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FPYPCYDPATREGDLKLLQL M EKAKINKYVTILHLPKKGDD 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                         FPYPCYDPATREGDLKLLQLMEKAKINKYVTILHLPKKGDD

Mouse                         FPYPCYDEYTREGDLQLVRLKKKATVNRNVAILHLPKKGDD

Bovine                        IPYPCFDPQTFEGDLQLLQLEGKATMTKAVGILQLPRTEDD

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	29 – 262	Granzyme A
Domain	29 – 259	Peptidase S1
Active site	114 – 114	Charge relay system
Beta strand	116 – 122

Literature citations
Cloning and chromosomal assignment of a human cDNA encoding a T cell- and natural killer cell-specific trypsin-like serine protease.
Gershenfeld H.K.; Hershberger R.J.; Shows T.B.; Weissman I.L.;
Proc. Natl. Acad. Sci. U.S.A. 85:1184-1188(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA); FUNCTION; SUBCELLULAR LOCATION; VARIANT THR-121; Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).
Ebert L.; Schick M.; Neubert P.; Schatten R.; Henze S.; Korn B.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA); VARIANT THR-121; 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] (ISOFORM ALPHA); VARIANT THR-121;

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.