UniProtKB/Swiss-Prot P21462: Variant p.Glu346Ala

N-formyl peptide receptor 1
Gene: FPR1
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Variant information Variant position:

346 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 Glutamate (E) to Alanine (A) at position 346 (E346A, p.Glu346Ala). 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 acidic (E) to small size and hydrophobic (A) 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:

Common FPR1 variations may have been selected to enhance human resistance to infections. FRP1 p.Arg190Trp is identified as an allele that protect neutrophils from destruction by Y. pestis type III secretion system. Additional information on the polymorphism described.
Variant description:

Loss of interactions between peripheral blood mononuclear cells and necrotic tumor cells; associated with reduced metastasis-free survival and overall survival in breast cancer and colorectal cancer patients receiving chemotherapy. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs867228 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

EDSTQTSDTATNSTLPSAEV E LQAK 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                         EDSTQTSDTATN---STLPSAEVELQAK

Mouse                         EDSAQTSDTGTNLGTNSTSLSENTL

Rabbit                        EDSAQTSDTGTN---STSAPAEAEL

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	1 – 350	N-formyl peptide receptor 1
Topological domain	306 – 350	Cytoplasmic
Region	325 – 350	Disordered
Modified residue	328 – 328	Phosphoserine
Modified residue	329 – 329	Phosphothreonine
Modified residue	331 – 331	Phosphothreonine
Modified residue	332 – 332	Phosphoserine
Modified residue	334 – 334	Phosphothreonine
Modified residue	336 – 336	Phosphothreonine
Modified residue	338 – 338	Phosphoserine
Modified residue	339 – 339	Phosphothreonine

Literature citations
Synthesis and use of a novel N-formyl peptide derivative to isolate a human N-formyl peptide receptor cDNA.
Boulay F.; Tardif M.; Brouchon L.; Vignais P.;
Biochem. Biophys. Res. Commun. 168:1103-1109(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; VARIANTS LEU-101 AND ALA-346;
The human N-formylpeptide receptor. Characterization of two cDNA isolates and evidence for a new subfamily of G-protein-coupled receptors.
Boulay F.; Tardif M.; Brouchon L.; Vignais P.;
Biochemistry 29:11123-11133(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; SUBCELLULAR LOCATION; VARIANTS LEU-101 AND ALA-346;
Submission
Perez H.D.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-346;
Chemotherapy-induced antitumor immunity requires formyl peptide receptor 1.
Vacchelli E.; Ma Y.; Baracco E.E.; Sistigu A.; Enot D.P.; Pietrocola F.; Yang H.; Adjemian S.; Chaba K.; Semeraro M.; Signore M.; De Ninno A.; Lucarini V.; Peschiaroli F.; Businaro L.; Gerardino A.; Manic G.; Ulas T.; Guenther P.; Schultze J.L.; Kepp O.; Stoll G.; Lefebvre C.; Mulot C.; Castoldi F.; Rusakiewicz S.; Ladoire S.; Apetoh L.; Bravo-San Pedro J.M.; Lucattelli M.; Delarasse C.; Boige V.; Ducreux M.; Delaloge S.; Borg C.; Andre F.; Schiavoni G.; Vitale I.; Laurent-Puig P.; Mattei F.; Zitvogel L.; Kroemer G.;
Science 350:972-978(2015)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT ALA-346;

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.