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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02751: Variant p.Val2261Ile

Fibronectin
Gene: FN1
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Variant information Variant position: help 2261 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 Isoleucine (I) at position 2261 (V2261I, p.Val2261Ile). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 3 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

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


Sequence information Variant position: help 2261 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2477 The length of the canonical sequence.
Location on the sequence: help VPGTSTSATLTGLTRGATYN V IVEALKDQQRHKVREEVVTV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         VPGTSTSATLTGLTRGATYNVIVEALKDQQRHKVREEVVTV

Mouse                         VPGTSTSATLTGLTRGVTYNIIVEALQNQRRHKVREEVVTV

Rat                           VPGTSTSATLTGLTRGVTYNIIVEALHNQRRHKVREEVVTV

Bovine                        VPGTSASATLTGLTRGATYNIIVEAVKDQQRQKVREEVVTV

Horse                         VPGTSASATLTGLTRGATYNIIVEALKDQKRHKVREEVVTV

Chicken                       VPGTSSSATLTGLTRGATYNIIVEALKDHRRQKVLEEVVTV

Xenopus laevis                VPGTSSSATLNGLTRGATYNIVVEAQKGTDKHKVLEKRVTV

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 32 – 2477 Fibronectin
Domain 2194 – 2288 Fibronectin type-III 17
Alternative sequence 658 – 2477 Missing. In isoform 2 and isoform 16.
Alternative sequence 2081 – 2284 KTDELPQLVTLPHPNLHGPEILDVPSTVQKTPFVTHPGYDTGNGIQLPGTSGQQPSVGQQMIFEEHGFRRTTPPTTATPIRHRPRPYPPNVGEEIQIGHIPREDVDYHLYPHGPGLNPNASTGQEALSQTTISWAPFQDTSEYIISCHPVGTDEEPLQFRVPGTSTSATLTGLTRGATYNVIVEALKDQQRHKVREEVVTVGNS -> KT. In isoform 6.
Alternative sequence 2243 – 2477 Missing. In isoform 4.
Beta strand 2257 – 2267



Literature citations
Vector-capping: a simple method for preparing a high-quality full-length cDNA library.
Kato S.; Ohtoko K.; Ohtake H.; Kimura T.;
DNA Res. 12:53-62(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 14); VARIANTS PRO-817 AND ILE-2261; Submission
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.; Ohara O.; Nagase T.; Kikuno R.F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 14); VARIANTS LEU-15; PRO-817 AND ILE-2261; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 7; 8; 9; 10; 13; 14; 15 AND 16); VARIANTS LEU-15; PRO-817 AND ILE-2261; Submission
Mural R.J.; Istrail S.; Sutton G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS LEU-15; PRO-817 AND ILE-2261; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 10); VARIANTS LEU-15; PRO-817 AND ILE-2261; Primary structure of human fibronectin: differential splicing may generate at least 10 polypeptides from a single gene.
Kornblihtt A.R.; Umezawa K.; Vibe-Pedersen K.; Baralle F.E.;
EMBO J. 4:1755-1759(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 28-2386 (ISOFORM 3); VARIANTS PRO-817 AND ILE-2261; Human fibronectin: cell specific alternative mRNA splicing generates polypeptide chains differing in the number of internal repeats.
Kornblihtt A.R.; Vibe-Pedersen K.; Baralle F.E.;
Nucleic Acids Res. 12:5853-5868(1984)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 973-2386 (ISOFORM 3); VARIANT ILE-2261; Human cellular fibronectin: comparison of the carboxyl-terminal portion with rat identifies primary structural domains separated by hypervariable regions.
Bernard M.P.; Kolbe M.; Weil D.; Chu M.-L.;
Biochemistry 24:2698-2704(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1685-2477 (ISOFORMS 1/11/15); VARIANT ILE-2261; Human plasma fibronectin. Demonstration of structural differences between the A- and B-chains in the III CS region.
Tressel T.; McCarthy J.B.; Calaycay J.; Lee T.D.; Legesse K.; Shively J.E.; Pande H.;
Biochem. J. 274:731-738(1991)
Cited for: PROTEIN SEQUENCE OF 1705-1719; 1821-1839; 1847-1850; 1894-1902; 1951-2014; 2021-2036; 2042-2063 AND 2073-2080 (ISOFORMS 1/3/4/5/6/7/8/9/10/11/12/13/14/15/17); PROTEIN SEQUENCE OF 2082-2094 (ISOFORMS 1/3/7/8/11/14/15); PROTEIN SEQUENCE OF 2111-2129 (ISOFORMS 1/3/7/8/9/11/12/14/15/17); PROTEIN SEQUENCE OF 2151-2161 (ISOFORMS 1/3/7/8/9/11/12/14/15); PROTEIN SEQUENCE OF 2162-2222 (ISOFORMS 1/8/11/15); PROTEIN SEQUENCE OF 2241-2271 (ISOFORMS 1/3/5/7/8/9/10/11/12/13/14/15/17); PROTEIN SEQUENCE OF 2276-2296 (ISOFORMS 1/3/7/8/9/10/11/12/13/14/15/17); PROTEIN SEQUENCE OF 2322-2333 (ISOFORMS 1/3/6/7/8/9/10/11/12/13/14/15/17); VARIANT ILE-2261; IDENTIFICATION BY MASS SPECTROMETRY; Novel cartilage-specific splice variants of fibronectin.
Parker A.E.; Boutell J.; Carr A.; Maciewicz R.A.;
Osteoarthritis Cartilage 10:528-534(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1879-2477 (ISOFORM 4); NUCLEOTIDE SEQUENCE [MRNA] OF 1879-2400 (ISOFORMS 5 AND 6); VARIANT ILE-2261; Primary structure of human plasma fibronectin. Characterization of a 31,000-dalton fragment from the COOH-terminal region containing a free sulfhydryl group and a fibrin-binding site.
Garcia-Pardo A.; Pearlstein E.; Frangione B.;
J. Biol. Chem. 260:10320-10325(1985)
Cited for: PROTEIN SEQUENCE OF 2162-2447 (ISOFORMS 3/7/9/12/14/17); VARIANT ILE-2261; Initial characterization of the human central proteome.
Burkard T.R.; Planyavsky M.; Kaupe I.; Breitwieser F.P.; Buerckstuemmer T.; Bennett K.L.; Superti-Furga G.; Colinge J.;
BMC Syst. Biol. 5:17-17(2011)
Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-2261; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];
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.