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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02751: Variant p.Thr817Pro

Fibronectin
Gene: FN1
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Variant information Variant position: help 817 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 Threonine (T) to Proline (P) at position 817 (T817P, p.Thr817Pro). 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 Change from medium size and polar (T) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

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


Sequence information Variant position: help 817 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 GEQSLILSTSQTTAPDAPPD T TVDQVDDTSIVVRWSRPQAP 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                         GEQSLILSTSQTTAPDAPPDTTVDQVDDTSIVVRWSRPQAP

Mouse                         GKQSLILSTSQTTAPDAPPDPTVDQVDDTSIVVRWSRPQAP

Rat                           GKQSLILSTSQTTAPDAPPDPTVDQVDDTSIVVRWSRPQAP

Bovine                        GEQNLILSTSQTTAPDAPPDPTVDQVDDTSIVVRWSRPRAP

Horse                         GEQSLILSTSQTTAPDAPPDPTVDQVDDTSIVVRWSRPQAP

Chicken                       GEQNLILSTSQTTAPDAPPEHSVESVDDTSIVISWSRPQAP

Xenopus laevis                GEKSLILSTTQTTAPDAPPEHNVENVDDTSIMIKWNKPQAP

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
Chain 723 – 911 Ugl-Y1
Chain 723 – 903 Ugl-Y2
Domain 813 – 904 Fibronectin type-III 3
Alternative sequence 658 – 2477 Missing. In isoform 2 and isoform 16.



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; Identification of novel fibronectin fragments detected specifically in juvenile urine.
Iida R.; Yasuda T.; Kishi K.;
FEBS J. 274:3939-3947(2007)
Cited for: PROTEIN SEQUENCE OF 723-911; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; GLYCOSYLATION AT ASN-877; VARIANT PRO-817;
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.