Variant position: 1114 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 QSDVWSFGVLLWEIFSLGAS PYPGVQINEEFCQRLRDGTRM
Mouse QSDVWSFGVLLWEIFSLGAS PYPGVQINEEFCQRLKDGTRM
Rat QSDVWSFGVLLWEIFSLGAS PYPGVQINEEFCQRLKDGTRM
Zebrafish QSDVWSFGVLLWEIFSLGAS PYPGIQIDEDFCKRLKDGTRM
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
766 – 1298 Missing. In isoform 3.
Hereditary lymphedema: evidence for linkage and genetic heterogeneity.
Ferrell R.E.; Levinson K.L.; Esman J.H.; Kimak M.A.; Lawrence E.C.; Barmada M.M.; Finegold D.N.;
Hum. Mol. Genet. 7:2073-2078(1998)
Cited for: VARIANT LMPHM1 LEU-1114;
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;
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.