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UniProtKB/Swiss-Prot P35968: Variant p.Val848Glu

Vascular endothelial growth factor receptor 2
Gene: KDR
Variant information

Variant position:  848
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Valine (V) to Glutamate (E) at position 848 (V848E, p.Val848Glu).
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:  Change from medium size and hydrophobic (V) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  Strongly reduced autophosphorylation and kinase activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  848
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1356
The length of the canonical sequence.

Location on the sequence:   EFPRDRLKLGKPLGRGAFGQ  V IEADAFGIDKTATCRTVAVK
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.

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 20 – 1356 Vascular endothelial growth factor receptor 2
Topological domain 786 – 1356 Cytoplasmic
Domain 834 – 1162 Protein kinase
Nucleotide binding 840 – 848 ATP
Binding site 868 – 868 ATP
Alternative sequence 679 – 1356 Missing. In isoform 2.
Alternative sequence 713 – 1356 Missing. In isoform 3.
Mutagenesis 868 – 868 K -> M. Loss of enzyme activity.
Beta strand 844 – 858


Literature citations

Identification of a new endothelial cell growth factor receptor tyrosine kinase.
Terman B.I.; Carrion M.E.; Kovacs E.; Rasmussen B.A.; Eddy R.L.; Shows T.B.;
Oncogene 6:1677-1683(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3-1356 (ISOFORM 1); VARIANT GLU-848;

Vascular endothelial growth factor receptor KDR tyrosine kinase activity is increased by autophosphorylation of two activation loop tyrosine residues.
Kendall R.L.; Rutledge R.Z.; Mao X.; Tebben A.J.; Hungate R.W.; Thomas K.A.;
J. Biol. Chem. 274:6453-6460(1999)
Cited for: CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANT GLU-848; PHOSPHORYLATION AT TYR-1054 AND TYR-1059; ACTIVITY REGULATION;

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.