Variant position: 34 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 LMAL-VTQGDPVKPSRGPLVT CTCESPHCKGPTCRGAWCTVV
Mouse SVAFGLTRGDLAKPSK--LVN CTCESPHCKRPFCQGSWCTV
Rat SVALGLTKGDLVKPSRGQLVN CTCENPHCKRPICQGAWCTV
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
22 – 118 Extracellular
34 – 51
32 – 35
Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.
Abdalla S.A.; Pece-Barbara N.; Vera S.; Tapia E.; Paez E.; Bernabeu C.; Letarte M.;
Hum. Mol. Genet. 9:1227-1237(2000)
Cited for: VARIANTS HHT2 GLY-48-49-ALA DELINS EP; CYS-50; SER-232 DEL; ILE-333; TYR-344 AND ASP-407;
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.
Harrison R.E.; Flanagan J.A.; Sankelo M.; Abdalla S.A.; Rowell J.; Machado R.D.; Elliott C.G.; Robbins I.M.; Olschewski H.; McLaughlin V.; Gruenig E.; Kermeen F.; Halme M.; Raeisaenen-Sokolowski A.; Laitinen T.; Morrell N.W.; Trembath R.C.;
J. Med. Genet. 40:865-871(2003)
Cited for: VARIANTS HHT2 ALA-179; ASP-211; TYR-344; TRP-374; GLN-374; SER-399; GLN-411 AND THR-487; CHARACTERIZATION OF VARIANTS HHT2 CYS-50; GLN-67; TRP-77; ALA-179; ASP-211; SER-232 DEL; ASP-254 DEL; ILE-333; TYR-344; GLN-374; LEU-378; GLN-411 AND THR-487;
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler A.D.; Richards J.; George C.; Godmilow L.; Ganguly A.;
Hum. Mutat. 27:667-675(2006)
Cited for: VARIANT SER-30; VARIANTS HHT2 TYR-34; ALA-52; ILE-197; ASP-219; LYS-237; LEU-260; PRO-289; ARG-344; CYS-426 AND ARG-433;
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.