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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35916: Variant p.Ile1086Thr

Vascular endothelial growth factor receptor 3
Gene: FLT4
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Variant information Variant position: help 1086 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 Isoleucine (I) to Threonine (T) at position 1086 (I1086T, p.Ile1086Thr). 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 (I) to medium size and polar (T) 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 LMPHM1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1086 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1363 The length of the canonical sequence.
Location on the sequence: help PDYVRKGSARLPLKWMAPES I FDKVYTTQSDVWSFGVLLWE 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                         PDYVRKGSARLPLKWMAPESIFDKVYTTQSDVWSFGVLLWE

Mouse                         PDYVRKGSARLPLKWMAPESIFDKVYTTQSDVWSFGVLLWE

Rat                           PDYVRKGSARLPLKWMAPESIFDKVYTTQSDVWSFGVLLWE

Zebrafish                     PDYVRKGNARLPLKWMAPESIFDKVYTSQSDVWSFGVLLWE
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 25 – 1363 Vascular endothelial growth factor receptor 3
Topological domain 797 – 1363 Cytoplasmic
Domain 845 – 1173 Protein kinase
Modified residue 1068 – 1068 Phosphotyrosine; by autocatalysis
Alternative sequence 766 – 1298 Missing. In isoform 3.
Mutagenesis 1068 – 1068 Y -> F. Global loss of autophosphorylation. Abolishes stimulation of cell proliferation and cell migration.



Literature citations
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
Ghalamkarpour A.; Morlot S.; Raas-Rothschild A.; Utkus A.; Mulliken J.B.; Boon L.M.; Vikkula M.;
Clin. Genet. 70:330-335(2006)
Cited for: VARIANTS LMPHM1 MET-878; THR-1086 AND PHE-1108 DEL; VARIANT GLN-1035; INVOLVEMENT IN LMPHM1;
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.