Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17948: Variant p.Leu1061Val

Vascular endothelial growth factor receptor 1
Gene: FLT1
Feedback?
Variant information Variant position: help 1061 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 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: 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 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: help In a bladder transitional cell carcinoma sample; somatic mutation. Any additional useful information about the variant.


Sequence information Variant position: help 1061 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1338 The length of the canonical sequence.
Location on the sequence: help 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: help 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: 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 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.