Variant position: 374 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 MHSQGSDYLDIGNNPRVGTK RYMAPEVLDEQIRTDCFESYK
Mouse MHSQSSDYLDIGNNPRVGTK RYMAPEVLDEHIRTDCFESYK
Rat MHSQSSDYLDIGNNPRVGTK RYMAPEVLDEQIRTDCFESYK
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.
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.
Berg J.N.; Gallione C.J.; Stenzel T.T.; Johnson D.W.; Allen W.P.; Schwartz C.E.; Jackson C.E.; Porteous M.E.M.; Marchuk D.A.;
Am. J. Hum. Genet. 61:60-67(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HHT2 CYS-50; GLN-67; ILE-333; TRP-374 AND THR-424;
Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.
Kjeldsen A.D.; Brusgaard K.; Poulsen L.; Kruse T.; Rasmussen K.; Green A.; Vase P.;
Am. J. Med. Genet. 98:298-302(2001)
Cited for: VARIANTS HHT2 TRP-374 AND ASN-398;
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;
Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.
Kuehl H.K.A.; Caselitz M.; Hasenkamp S.; Wagner S.; El-Harith E.-H.A.; Manns M.P.; Stuhrmann M.;
Hum. Mutat. 25:320-320(2005)
Cited for: VARIANTS HHT2 TRP-67; TRP-374; LYS-379; ASP-407; TRP-411; VAL-425 AND PHE-425 DEL;
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