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:
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 MCFLSFLVPPMTIYTEQDLY SYVISKPRNKRVPILPFVIGA
Gorilla MCFLSFLVPPMTIYTEQDLY NYVVSKPRNKRVPILPFVIGA
Chimpanzee MCFLSFLVPPMTIYTEQDLY NYVVSKPRNKRVPILPFVIGA
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
21 – 538 Syncytin-1
21 – 317 Surface protein
21 – 443 Extracellular
186 – 405 Interchain (between SU and TM chains, or C-189 with C-405); in linked form
317 – 317 R -> T. Complete loss of cleavage between SU and TM. Loss of fusiogenic function.
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.;
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;
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