Variant position: 1035 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1363 The length of the canonical sequence.
Location on the sequence:
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 VCYSFQVARGMEFLASRKCI HRDLAARNILLSESDVVKICD
Mouse VCYSFQVARGMEFLASRKCI HRDLAARNILLSESDIVKICD
Rat VCYSFQVARGMEFLASRKCI HRDLAARNILLSESDIVKICD
Zebrafish ICYSFQVARGMEFLASRKCI HRDLAARNILLSENNVVKICD
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.
Type Positions Description
25 – 1363 Vascular endothelial growth factor receptor 3
797 – 1363 Cytoplasmic
845 – 1173 Protein kinase
1037 – 1037 Proton acceptor
766 – 1298 Missing. In isoform 3.
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
Irrthum A.; Karkkainen M.J.; Devriendt K.; Alitalo K.; Vikkula M.;
Am. J. Hum. Genet. 67:295-301(2000)
Cited for: INVOLVEMENT IN LMPHM1; CHARACTERIZATION OF VARIANT LMPHM1 ARG-1035;
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.