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UniProtKB/Swiss-Prot P21462: Variant p.Glu346Ala

fMet-Leu-Phe receptor
Gene: FPR1
Variant information

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

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

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

Other resources:  
Links to websites of interest for the variant.



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.

TypePositionsDescription
Chain 1 – 350 fMet-Leu-Phe receptor
Topological domain 306 – 350 Cytoplasmic
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;

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.