Sequence information
Variant position: 326 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 564 The length of the canonical sequence.
Location on the sequence:
ISSSVIITTTHCSDGSILAI
A LLILFLLLALALLWWFWPLC
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 ISSSVIITTTHCSDGSILAIA LLILFLLLALALLWWFWPLC
Mouse ISSSVIITTTHCSDGSILAIA LLVLFLLLALALLWWFWPLC
Rat ISSSVIITTTHCSDGSILAIA LLILFLLLALALLWWFWPLC
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
Chain
33 – 564
Anthrax toxin receptor 1
Transmembrane
322 – 342
Helical
Alternative sequence
298 – 564
Missing. In isoform 3.
Alternative sequence
315 – 358
THCSDGSILAIALLILFLLLALALLWWFWPLCCTVIIKEVPPPP -> FHPSPSSPGSTSQQGTSSLPPSSKAFCLEPKVPALGSLRNFRRC. In isoform 6.
Alternative sequence
319 – 333
DGSILAIALLILFLL -> LHKIASGPTTAACME. In isoform 4.
Literature citations
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.
Jinnin M.; Medici D.; Park L.; Limaye N.; Liu Y.; Boscolo E.; Bischoff J.; Vikkula M.; Boye E.; Olsen B.R.;
Nat. Med. 14:1236-1246(2008)
Cited for: VARIANT HCI SUSCEPTIBILITY THR-326;
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.