Sequence information
Variant position: 223 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:
ALVECVGKGRYGEVWRGLWH
G ESVAVKIFSSRDEQSWFRET
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 ALVECVGKGRYGEVWRGLWHG ESVAVKIFSSRDEQSWFRET
Mouse ALVECVGKGRYGEVWRGSWHG ESVAVKIFSSRDEQSWFRET
Rat ALVECVGKGRYGEVWRGSWHG ESVAVKIFSSRDEQSWFRET
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
22 – 503
Serine/threonine-protein kinase receptor R3
Topological domain
142 – 503
Cytoplasmic
Domain
202 – 492
Protein kinase
Binding site
229 – 229
ATP
Literature citations
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
Lesca G.; Plauchu H.; Coulet F.; Lefebvre S.; Plessis G.; Odent S.; Riviere S.; Leheup B.; Goizet C.; Carette M.-F.; Cordier J.-F.; Pinson S.; Soubrier F.; Calender A.; Giraud S.;
Hum. Mutat. 23:289-299(2004)
Cited for: VARIANTS HHT2 ARG-48; LYS-215; ARG-223; ARG-229; SER-233 DEL; PHE-285; PRO-306; TYR-314; PRO-337; PRO-347; GLN-374; VAL-376; LYS-379; GLY-397; TRP-411; PRO-411; GLN-411; LEU-425; LEU-479; VAL-482 AND TRP-484;
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.