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UniProtKB/Swiss-Prot Q9UQF0: Variant p.Ser307Asn

Syncytin-1
Gene: ERVW-1
Variant information

Variant position:  307
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 Serine (S) to Asparagine (N) at position 307 (S307N, p.Ser307Asn).
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 small size and polar (S) to medium size and polar (N)
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:  All variants have fusogenic properties.
Additional information on the polymorphism described.

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



Sequence information

Variant position:  307
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  538
The length of the canonical sequence.

Location on the sequence:   MCFLSFLVPPMTIYTEQDLY  S YVISKPRNKRVPILPFVIGA
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                         MCFLSFLVPPMTIYTEQDLYSYVISKPRNKRVPILPFVIGA

Gorilla                       MCFLSFLVPPMTIYTEQDLYNYVVSKPRNKRVPILPFVIGA

Chimpanzee                    MCFLSFLVPPMTIYTEQDLYNYVVSKPRNKRVPILPFVIGA

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 21 – 538 Syncytin-1
Chain 21 – 317 Surface protein
Topological domain 21 – 443 Extracellular
Disulfide bond 186 – 405 Interchain (between SU and TM chains, or C-189 with C-405); in linked form
Mutagenesis 317 – 317 R -> T. Complete loss of cleavage between SU and TM. Loss of fusiogenic function.


Literature citations

Syncytin is captive retroviral envelope protein involved in human placental morphogenesis.
Sha M.; Lee X.; Li X.-P.; Veldman G.M.; Finnerty H.; Racie L.; LaVallie E.; Tang X.-Y.; Edouard P.; Howes S.; Keith J.C. Jr.; McCoy J.M.;
Nature 403:785-789(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; FUNCTION; VARIANT ASN-307;

The endogenous retroviral locus ERVWE1 is a bona fide gene involved in hominoid placental physiology.
Mallet F.; Bouton O.; Prudhomme S.; Cheynet V.; Oriol G.; Bonnaud B.; Lucotte G.; Duret L.; Mandrand B.;
Proc. Natl. Acad. Sci. U.S.A. 101:1731-1736(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-129; GLN-138; ASN-307 AND PHE-477;

The HERV-W/7q family in the human genome. Potential for protein expression and gene regulation.
Alliel P.M.; Perin J.-P.; Goudou D.; Bitoun M.; Robert B.; Rieger F.;
Cell. Mol. Biol. 48:213-217(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-533; VARIANT ASN-307;

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.