UniProtKB/Swiss-Prot P21462: Variant p.Asn192Lys

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

192 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 Asparagine (N) to Lysine (K) at position 192 (N192K, p.Asn192Lys). 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 polar (N) to large size and basic (K) 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
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.
Other resources:

Links to websites of interest for the variant.

Variant rs1042229 [ dbSNP | Ensembl ]

Sequence information Variant position:

192 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:

GTVACTFNFSPWTNDPKERI N VAVAMLTVRGIIRFIIGFSA 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                         GTVACTFNFSPWTNDPKERINVAVAMLTVRGIIRFIIGFSA

Mouse                         GKTACTFDFSPWTKDPVEKRKVAVTMLTVRGIIRFIIGFST

Rabbit                        GKMACTFDWSPWTEDPAEKLKVAISMFMVRGIIRFIIGFST

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
Mapping of genes for the human C5a receptor (C5AR), human FMLP receptor (FPR), and two FMLP receptor homologue orphan receptors (FPRH1, FPRH2) to chromosome 19.
Bao L.; Gerard N.P.; Eddy R.L. Jr.; Shows T.B.; Gerard C.;
Genomics 13:437-440(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT LYS-192;
cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org).
Kopatz S.A.; Aronstam R.S.; Sharma S.V.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS THR-11 AND LYS-192;

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.