Sequence information
Variant position: 425 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:
LWEIARRTIVNGIVEDYRPP
F YDVVPNDPSFEDMKKVVCVD
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 LWEIARRTIVNGIVEDYRPPF YDVVPNDPSFEDMKKVVCVD
Mouse LWEIARRTIINGIVEDYRPPF YDMVPNDPSFEDMKKVVCVD
Rat LWEIARRTIINGIVEDYRPPF YDMVPNDPSFEDMKKVVCVD
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.
Literature citations
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;
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.