Variant position: 416 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 503 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 TDIWAFGLVLWEIARRTIVN GIVEDYRPPFYDVVPNDPSFE
Mouse TDIWAFGLVLWEIARRTIIN GIVEDYRPPFYDMVPNDPSFE
Rat TDIWAFGLVLWEIARRTIIN GIVEDYRPPFYDMVPNDPSFE
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
22 – 503 Serine/threonine-protein kinase receptor R3
142 – 503 Cytoplasmic
202 – 492 Protein kinase
Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.
Argyriou L.; Twelkemeyer S.; Panchulidze I.; Wehner L.E.; Teske U.; Engel W.; Nayernia K.;
Int. J. Mol. Med. 17:655-659(2006)
Cited for: VARIANTS HHT2 GLY-50; PRO-66; ARG-69; TYR-176; LEU-233; PRO-265; PRO-403 AND SER-416;
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