UniProtKB/Swiss-Prot P21462: Variant p.Arg190Trp

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

190 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 Tryptophan (W) at position 190 (R190W, p.Arg190Trp). 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 large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

Confers resistance to Y. pestis infection by protecting immune cells from the type III secretion system T3SS; reduces T3SS-mediated translocation of effector proteins into neutrophils and macrophages; impairs monocyte chemotaxis towards fMLF and Y. pestis; no effect on protein expression and localization at the cell surface. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs5030880 [ dbSNP | Ensembl ]

Sequence information Variant position:

190 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:

KTGTVACTFNFSPWTNDPKE R INVAVAMLTVRGIIRFIIGF 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                         KT---GTVACTFNFSPWTNDPKERINVAVAMLTVRGIIRFIIGF

Mouse                         SRLGPGKTACTFDFSPWTKDPVEKRKVAVTMLTVRGIIRFI

Rabbit                        PR-APGKMACTFDWSPWTEDPAEKLKVAISMFMVRGIIRFI

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	163 – 205	Extracellular
Binding site	201 – 201
Binding site	201 – 201
Binding site	201 – 201
Binding site	205 – 205
Binding site	205 – 205
Binding site	205 – 205
Mutagenesis	178 – 178	F -> A. Decreases the agonist potency of non-formylated WKYMVm peptide.
Mutagenesis	201 – 201	R -> A. Abolishes the response to N-formyl peptide fMLF. Decreases intracellular cAMP reduction upon stimulation with N-formyl peptides fMIFL and fMLFII. Abolishes the response to fMIFL; when associated with A-205. Decreases the agonist potency of non-formylated WKYMVm peptide.
Mutagenesis	205 – 205	R -> A. Abolishes the response to N-formyl peptide fMLF. Decreases intracellular cAMP reduction upon stimulation with N-formyl peptides fMIFL and fMLFII. Abolishes the response to fMIFL; when associated with A-201. Slightly decreases the agonist potency of non-formylated WKYMVm peptide.
Helix	187 – 208

Literature citations
FPR1 is the plague receptor on host immune cells.
Osei-Owusu P.; Charlton T.M.; Kim H.K.; Missiakas D.; Schneewind O.;
Nature 574:57-62(2019)
Cited for: FUNCTION (MICROBIAL INFECTION); INTERACTION WITH LCRV (MICROBIAL INFECTION); POLYMORPHISM; CHARACTERIZATION OF VARIANT TRP-190;

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.