Variant position: 176 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 ELGESSLILKASEQGDSMLG DLLDSDCTTGSGSGLPFLVQR
Mouse DLGESSLILKASEQADSMLG DFLDSDCTTGSGSGLPFLVQR
Rat DLGESSLILKASEQGDSMLG DFLVSDCTTGSGSGLPFLVQR
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
172 – 201 GS
160 – 160 Phosphoserine
161 – 161 Phosphoserine
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;
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.