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UniProtKB/Swiss-Prot P17948: Variant p.Leu1061Val

Vascular endothelial growth factor receptor 1
Gene: FLT1
Chromosomal location: 13q12
Variant information

Variant position:  1061
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Valine (V) at position 1061 (L1061V, p.Leu1061Val).
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:  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:  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

Variant description:  In a bladder transitional cell carcinoma sample; somatic mutation.
Any additional useful information about the variant.



Sequence information

Variant position:  1061
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1338
The length of the canonical sequence.

Location on the sequence:   FGLARDIYKNPDYVRKGDTR  L PLKWMAPESIFDKIYSTKSD
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                         FGLARDIYKNPDYVRKGDTRLPLKWMAPESIFDKIYSTKSD

Mouse                         FGLARDIYKNPDYVRRGDTRLPLKWMAPESIFDKVYSTKSD

Rat                           FGLARDIYKNPDYVRRGDTRLPLKWMAPESIFDKVYSTKSD

Chicken                       FGLARDIYKNPDYVRKGDARLPLKWMAPESIFDKIYNTKSD

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.

TypePositionsDescription
Chain 27 – 1338 Vascular endothelial growth factor receptor 1
Topological domain 781 – 1338 Cytoplasmic
Domain 827 – 1158 Protein kinase
Modified residue 1053 – 1053 Phosphotyrosine; by autocatalysis
Alternative sequence 542 – 1338 Missing. In isoform 4.
Alternative sequence 688 – 1338 Missing. In isoform 2.
Alternative sequence 734 – 1338 Missing. In isoform 3.
Mutagenesis 1050 – 1050 N -> D. Strongly increases kinase activity. Increases activity in promoting proliferation of endothelial cells.


Literature citations

Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-60; LYS-144; GLN-281; ILE-422; GLN-781; VAL-938; ALA-982 AND VAL-1061;

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.