UniProtKB/Swiss-Prot P35354: Variant p.Val511Ala

Prostaglandin G/H synthase 2
Gene: PTGS2
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Variant information Variant position:

511 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 Alanine (A) at position 511 (V511A, p.Val511Ala). 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 (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs5273 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PALLVEKPRPDAIFGETMVE V GAPFSLKGLMGNVICSPAYW 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                         PALLVEKPRPDAIFGETMVEVGAPFSLKGLMGNVICSPAYW

Mouse                         PALLVEKPRPDAIFGETMVELGAPFSLKGLMGNPICSPQYW

Rat                           PALLVEKPRPDAIFGETMVELGAPFSLKGLMGNPICSPQYW

Bovine                        PALLVEKPRPDAIFGETMVEAGAPFSLKGLMGNPICSPEYW

Rabbit                        PALLVERPRPDAIFGESMVEMGAPFSLKGLMGNPICSPNYW

Sheep                         PALLVEKPAPDAIFGETMVEAGAPFSLKGLMGNPICSPEYW

Horse                         PALLVEKPRPDAIFGETMVELGAPFSLKGLLGNPICSPDYW

Chicken                       PGLLVEKPRPGAIFGETMVEIGAPFSLKGLMGNTICSPEYW

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	18 – 604	Prostaglandin G/H synthase 2
Site	516 – 516	Aspirin-acetylated serine
Modified residue	526 – 526	S-nitrosocysteine
Mutagenesis	516 – 516	S -> A. No effect on protein stability. Increased decrease of protein stability; when associated with A-371.
Mutagenesis	516 – 516	S -> T. Decreased enzyme activity with arachidonic acid. Loss of cyclooxygenase activity; when associated with V-519.
Mutagenesis	519 – 519	G -> V. Loss of cyclooxygenase activity. Loss of cyclooxygenase activity; when associated with T-516.
Mutagenesis	526 – 526	C -> S. Prevents activation by nitric oxid (NO).
Helix	506 – 521

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-228; ALA-428; ALA-511 AND ARG-587; Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk.
Goodman J.E.; Bowman E.D.; Chanock S.J.; Alberg A.J.; Harris C.C.;
Carcinogenesis 25:2467-2472(2004)
Cited for: VARIANT ALA-511;

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.