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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02751: Variant p.Leu1974Arg

Fibronectin
Gene: FN1
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Variant information Variant position: help 1974 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Leucine (L) to Arginine (R) at position 1974 (L1974R, p.Leu1974Arg). 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 hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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
Variant description: help In GFND2; reduced binding to heparin, endothelial cells and podocytes; impaired capability to induce stress-fiber formation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1974 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 PDVRSYTITGLQPGTDYKIY L YTLNDNARSSPVVIDASTAI 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                         PDVRSYTITGLQPGTDYKIYLYTLNDNARSSPVVIDASTAI

Mouse                         PDVRSYTITGLQPGTDYKIHLYTLNDNARSSPVIIDASTAI

Rat                           PDVRSYTITGLQPGTDYKIHLYTLNDNARSSPVVIDASTAI

Bovine                        PDVRSYTITGLQPGTDYKIHLYTLNDNARSSPVVIDASTAI

Horse                         PDVRSYTITGLQPGTDYKIYLYTLNDNARSSPVIIDASTAI

Chicken                       PDVRTYTITGLQPGNDYKIYLYTLNENARSSPVVIDASTAI

Xenopus laevis                ADLRTFTITGLQPGTDYKIYLYTLNDNARSSPVTVDVTTAV
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 1909 – 1995 Fibronectin type-III 15
Region 1812 – 2082 Heparin-binding 2
Region 1904 – 2082 Binds to FBLN1
Alternative sequence 658 – 2477 Missing. In isoform 2 and isoform 16.
Beta strand 1969 – 1978



Literature citations
Mutations in FN1 cause glomerulopathy with fibronectin deposits.
Castelletti F.; Donadelli R.; Banterla F.; Hildebrandt F.; Zipfel P.F.; Bresin E.; Otto E.; Skerka C.; Renieri A.; Todeschini M.; Caprioli J.; Caruso R.M.; Artuso R.; Remuzzi G.; Noris M.;
Proc. Natl. Acad. Sci. U.S.A. 105:2538-2543(2008)
Cited for: VARIANTS GFND2 CYS-973; ARG-1925 AND ARG-1974; VARIANTS LEU-15 AND VAL-2051; CHARACTERIZATION OF VARIANTS GFND2 ARG-1925 AND ARG-1974;
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.