Variant position: 484 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 LAQMMRECWYPNPSARLTAL RIKKTLQKISNSPEKPKVIQ
Mouse LAQMMRECWYPNPSARLTAL RIKKTLQKLSHNPEKPKVIH
Rat LAQMMRECWYPNPSARLTAL RIKKTLQKLSQNPEKPKVIH
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.
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.
Trembath R.C.; Thomson J.R.; Machado R.D.; Morgan N.V.; Atkinson C.; Winship I.; Simonneau G.; Galie N.; Loyd J.E.; Humbert M.; Nichols W.C.; Berg J.; Manes A.; McGaughran J.; Pauciulo M.; Wheeler L.; Morrell N.W.;
N. Engl. J. Med. 345:325-334(2001)
Cited for: VARIANTS HHT2 ASP-254 DEL; TRP-411 AND TRP-484;
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;
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.