Variant position: 261 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:
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 NQRVGETFHASQPSMTVDGF TDPSNSERFCLGLLSNVNRNA
Mouse NQRVGETFHASQPSMTVDGF TDPSNSERFCLGLLSNVNRNA
Rat NQRVGETFHASQPSMTVDGF TDPSNSERFCLGLLSNVNRNA
Pig NQRVGETFHASQPSMTVDGF TDPSNSERFCLGLLSNVNRNA
Chicken NQRVGETFHASQPSMTVDGF TDPSNSERFCLGLLSNVNRNA
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
2 – 425 Mothers against decapentaplegic homolog 3
232 – 425 MH2
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
van de Laar I.M.; Oldenburg R.A.; Pals G.; Roos-Hesselink J.W.; de Graaf B.M.; Verhagen J.M.; Hoedemaekers Y.M.; Willemsen R.; Severijnen L.A.; Venselaar H.; Vriend G.; Pattynama P.M.; Collee M.; Majoor-Krakauer D.; Poldermans D.; Frohn-Mulder I.M.; Micha D.; Timmermans J.; Hilhorst-Hofstee Y.; Bierma-Zeinstra S.M.; Willems P.J.; Kros J.M.; Oei E.H.; Oostra B.A.; Wessels M.W.; Bertoli-Avella A.M.;
Nat. Genet. 43:121-126(2011)
Cited for: VARIANTS LDS3 ILE-261 AND TRP-287;
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