Sequence information
Variant position: 279 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 425 The length of the canonical sequence.
Location on the sequence:
GFTDPSNSERFCLGLLSNVN
R NAAVELTRRHIGRGVRLYYI
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 GFTDPSNSERFCLGLLSNVNR NAAVELTRRHIGRGVRLYYI
Mouse GFTDPSNSERFCLGLLSNVNR NAAVELTRRHIGRGVRLYYI
Rat GFTDPSNSERFCLGLLSNVNR NAAVELTRRHIGRGVRLYYI
Pig GFTDPSNSERFCLGLLSNVNR NAAVELTRRHIGRGVRLYYI
Chicken GFTDPSNSERFCLGLLSNVNR NAAVELTRRHIGRGVRLYYI
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
Chain
2 – 425
Mothers against decapentaplegic homolog 3
Domain
232 – 425
MH2
Region
271 – 324
Sufficient for interaction with XPO4
Literature citations
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
Regalado E.S.; Guo D.C.; Villamizar C.; Avidan N.; Gilchrist D.; McGillivray B.; Clarke L.; Bernier F.; Santos-Cortez R.L.; Leal S.M.; Bertoli-Avella A.M.; Shendure J.; Rieder M.J.; Nickerson D.A.; Milewicz D.M.;
Circ. Res. 109:680-686(2011)
Cited for: VARIANTS LDS3 VAL-112; LYS-239 AND LYS-279;
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.