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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02751: Variant p.Ile2051Val

Fibronectin
Gene: FN1
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Variant information Variant position: help 2051 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 Isoleucine (I) to Valine (V) at position 2051 (I2051V, p.Ile2051Val). 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 2051 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 PGSPPREVVPRPRPGVTEAT I TGLEPGTEYTIYVIALKNNQ 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                         PGSPPREVVPRPRPGVTEATITGLEPGTEYTIYVIALKNNQ

Mouse                         PGSPPREVVPRPRPGVTEATITGLEPGTEYTIYVIALKNNQ

Rat                           PGSPPREVVPRPRPGVTEATITGLEPGTEYTIYVIALKNNQ

Bovine                        PGSPPREVVPRPRPGVTEATITGLEPGTEYTIQVIALKNNQ

Horse                         PGSPPREVVPRPHPGVTEATITGLEPGTEYTIQVIAIKNNQ

Chicken                       PGSPAKELLPRPRPGTTEATITGLEPGTEYTIYIIAVKNNQ

Xenopus laevis                AGGLIKEHLPRLPAGTTESTLTNLEPGTEYIIYIIAVRNNM

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 1996 – 2086 Fibronectin type-III 16
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 2048 – 2051



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.