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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P0C645: Variant p.Val274Ala

Olfactory receptor 4E1
Gene: OR4E1
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Variant information Variant position: help 274 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Valine (V) to Alanine (A) at position 274 (V274A, p.Val274Ala). 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: help Change from medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help There at least 2 alleles for OR4E1. A non-functional allele results from a polymorphism at position 197 (dbSNP rs199890040), which leads to a frameshift, premature truncation of the coding region and hence pseudogenization. The presence of various combinations of functional (olfactory receptors) and non-functional (olfactory receptor segregating pseudogenes) alleles may underlie differences in olfactory sensitivity between individuals (hyperosmia, hyposmia or even anosmia). Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 274 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 315 The length of the canonical sequence.
Location on the sequence: help FLGHCIFIYSRPSTSLPEDK V VSVFFTAVTPLLNPIIYTLR 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.
Sequence annotation in neighborhood: help 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 – 315 Olfactory receptor 4E1
Transmembrane 273 – 293 Helical; Name=7



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.