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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35916: Variant p.Arg1041Pro

Vascular endothelial growth factor receptor 3
Gene: FLT4
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Variant information Variant position: help 1041 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 Arginine (R) to Proline (P) at position 1041 (R1041P, p.Arg1041Pro). 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 large size and basic (R) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In LMPHM1; loss of kinase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1041 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 VARGMEFLASRKCIHRDLAA R NILLSESDVVKICDFGLARD 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                         VARGMEFLASRKCIHRDLAARNILLSESDVVKICDFGLARD

Mouse                         VARGMEFLASRKCIHRDLAARNILLSESDIVKICDFGLARD

Rat                           VARGMEFLASRKCIHRDLAARNILLSESDIVKICDFGLARD

Zebrafish                     VARGMEFLASRKCIHRDLAARNILLSENNVVKICDFGLARD
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
Active site 1037 – 1037 Proton acceptor
Alternative sequence 766 – 1298 Missing. In isoform 3.



Literature citations
Ligand-induced vascular endothelial growth factor receptor-3 (VEGFR-3) heterodimerization with VEGFR-2 in primary lymphatic endothelial cells regulates tyrosine phosphorylation sites.
Dixelius J.; Makinen T.; Wirzenius M.; Karkkainen M.J.; Wernstedt C.; Alitalo K.; Claesson-Welsh L.;
J. Biol. Chem. 278:40973-40979(2003)
Cited for: INTERACTION WITH KDR; CATALYTIC ACTIVITY; AUTOPHOSPHORYLATION; CHARACTERIZATION OF VARIANT LMPHM1 PRO-1041; MUTAGENESIS OF LYS-879; TYR-1230; TYR-1231; TYR-1265; TYR-1333; TYR-1337 AND TYR-1363; PHOSPHORYLATION AT TYR-1230; TYR-1231; TYR-1265; TYR-1333; TYR-1337 AND TYR-1363; Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
Karkkainen M.J.; Ferrell R.E.; Lawrence E.C.; Kimak M.A.; Levinson K.L.; McTigue M.A.; Alitalo K.; Finegold D.N.;
Nat. Genet. 25:153-159(2000)
Cited for: VARIANTS LMPHM1 ARG-857; PRO-1041; PRO-1044 AND LEU-1114; VARIANT SER-641; CHARACTERIZATION OF VARIANTS;
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.