UniProtKB/Swiss-Prot Q9UQF0: Variant p.Ser307Asn

Syncytin-1
Gene: ERVW-1
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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.

Variant rs10266695 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
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.