Variant position: 352 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 552 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 DVQVGETFKVPSSCPIVTVD GYVDPSGGDRFCLGQLSNVHR
Mouse DVQVGETFKVPSSCPVVTVD GYVDPSGGDRFCLGQLSNVHR
Rat DVQVGETFKVPSSCPIVTVD GYVDPSGGDRFCLGQLSNVHR
Pig DVQVGETFKVPSSCPIVTVD GYVDPSGGDRFCLGQLSNVHR
Bovine DVQVGETFKVPSSCPIVTVD GYVDPSGGDRFCLGQLSNVHR
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.
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
Sayed M.G.; Ahmed A.F.; Ringold J.R.; Anderson M.E.; Bair J.L.; Mitros F.A.; Lynch H.T.; Tinley S.T.; Petersen G.M.; Giardiello F.M.; Vogelstein B.; Howe J.R.;
Ann. Surg. Oncol. 9:901-906(2002)
Cited for: VARIANTS JPS GLY-330 AND ARG-352;
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Gallione C.J.; Repetto G.M.; Legius E.; Rustgi A.K.; Schelley S.L.; Tejpar S.; Mitchell G.; Drouin E.; Westermann C.J.J.; Marchuk D.A.;
Cited for: VARIANTS JP/HHT ARG-352 AND ASP-386;
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