Variant position: 493 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 GSVGGIAPAISLSAAAGIGV DDLRRLCILRMSFVKGWGPDY
Mouse GSVGGIAPAISLSAAAGIGV DDLRRLCILRMSFVKGWGPDY
Rat GSVGGIAPAISLSAAAGIGV DDLRRLCILRMSFVKGWGPDY
Pig GSVGGIAPAISLSAAAGIGV DDLRRLCILRMSFVKGWGPDY
Bovine GSVGGIAPAISLSAAAGIGV DDLRRLCILRMSFVKGWGPDY
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
1 – 552 Mothers against decapentaplegic homolog 4
323 – 552 MH2
507 – 507 N6-acetyllysine
496 – 496 R -> S. No effect on heterotrimerization. Partially diminished transcriptional activation.
502 – 502 R -> S. No effect on heterotrimerization. Greatly reduced transcriptional activation.
493 – 497
DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1.
Hahn S.A.; Schutte M.; Shamsul Hoque A.T.M.; Moskaluk C.A.; da Costa L.T.; Rozenblum E.; Weinstein C.L.; Fischer A.; Yeo C.J.; Hruban R.H.; Kern S.E.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT PANCREATIC CARCINOMA HIS-493;
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