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UniProtKB/Swiss-Prot Q14264: Variant p.Asn569Ser

Endogenous retrovirus group 3 member 1 Env polyprotein
Gene: ERV3-1
Variant information

Variant position:  569
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 Asparagine (N) to Serine (S) at position 569 (N569S, p.Asn569Ser).
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 small size and polar (S)
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

Polymorphism:  This envelope gene is polymorphic with at least five different alleles. A mutation introducing a premature stop codon instead of amino acid 223 is present in approximately 1% of the Caucasian population (PubMed:9525678).
Additional information on the polymorphism described.

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

Sequence information

Variant position:  569
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  604
The length of the canonical sequence.

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:  
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.

Chain 23 – 604 Endogenous retrovirus group 3 member 1 Env polyprotein
Chain 472 – 604 Transmembrane protein
Motif 565 – 574 CX6CC
Glycosylation 569 – 569 N-linked (GlcNAc...) asparagine

Literature citations

The nucleotide sequence of the env gene from the human provirus ERV3 and isolation and characterization of an ERV3-specific cDNA.
Cohen M.; Powers M.; O'Connell C.; Kato N.;
Virology 147:449-458(1985)

Physiological knockout of the envelope gene of the single-copy ERV-3 human endogenous retrovirus in a fraction of the Caucasian population.
de Parseval N.; Heidmann T.;
J. Virol. 72:3442-3445(1998)
Cited for: VARIANTS TYR-192; CYS-236; PRO-522 AND SER-569; POLYMORPHISM;

Large number of polymorphic nucleotides and a termination codon in the env gene of the endogenous human retrovirus ERV3.
Rasmussen H.B.; Clausen J.;
Dis. Markers 14:127-133(1998)
Cited for: VARIANTS ILE-90; TYR-192; CYS-236; SER-481 AND SER-569; POLYMORPHISM;

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.