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NM_002029.4(FPR1):c.568A>T (p.Arg190Trp) AND N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 10, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001035430.9

Allele description [Variation Report for NM_002029.4(FPR1):c.568A>T (p.Arg190Trp)]

NM_002029.4(FPR1):c.568A>T (p.Arg190Trp)

Gene:
FPR1:formyl peptide receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.41
Genomic location:
Preferred name:
NM_002029.4(FPR1):c.568A>T (p.Arg190Trp)
Other names:
FPR1, ARG190TRP (rs5030880)
HGVS:
  • NC_000019.10:g.51746427T>A
  • NG_023426.1:g.10471A>T
  • NM_001193306.2:c.568A>T
  • NM_002029.4:c.568A>TMANE SELECT
  • NP_001180235.1:p.Arg190Trp
  • NP_002020.1:p.Arg190Trp
  • LRG_146t1:c.568A>T
  • LRG_146:g.10471A>T
  • NC_000019.9:g.52249680T>A
  • NM_002029.3:c.568A>T
Protein change:
R190W; ARG190TRP
Links:
OMIM: 136537.0001; dbSNP: rs5030880
NCBI 1000 Genomes Browser:
rs5030880
Molecular consequence:
  • NM_001193306.2:c.568A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002029.4:c.568A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001198757OMIM
no assertion criteria provided
Benign
(Apr 10, 2020)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

FPR1 is the plague receptor on host immune cells.

Osei-Owusu P, Charlton TM, Kim HK, Missiakas D, Schneewind O.

Nature. 2019 Oct;574(7776):57-62. doi: 10.1038/s41586-019-1570-z. Epub 2019 Sep 18.

PubMed [citation]
PMID:
31534221
PMCID:
PMC6776691

Details of each submission

From OMIM, SCV001198757.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Yersinia Pestis Resistance

Osei-Owusu et al. (2019) identified FPR1 R190W as a candidate resistance allele in humans that protects neutrophils from destruction by the Yersinia pestis type III secretion system (T3SS), which targets immune cells for destruction. In a human donor whose neutrophils exhibited decreased T3SS translocation and reduced chemotaxis toward N-formylpeptide and Y. pestis, Osei-Owusu et al. (2019) identified a SNP in the FPR1 gene, rs5030880A-T, that designated an arg190-to-trp (R190W) substitution in extracellular loop 2 between transmembrane domains 4 and 5. The authors stated that this variant occurs in 11 to 13% of Europeans and Americans of European descent, 6 to 9% of Africans and Americans of African descent, and 20% of Asians. This donor did not carry the CCR5-delta-32 allele (601373.0001). Osei-Owusu et al. (2019) generated macrophages expressing FPR1 R190W and found that they exhibited reduced effector translocation during Y. pestis infection, and chemotoaxis experiments revealed reduced migration of R190W-expressing monocytes towards N-formylpeptide and Y. pestis compared to controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024