Variant position: 1042 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1806 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 PAGLRGFPGERGLPGAQGAP GLKGGEGPQGPPGPVGSPGER
Mouse PAGIRGFPGERGLPGAQGAP GLKGGEGPQGPQGPVGSPGER
Rat PAGIRGFPGERGLPGAQGAP GLKGGEGPQGPQGPIGSPGER
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
512 – 1563 Collagen alpha-1(XI) chain
529 – 1542 Triple-helical region
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
Tompson S.W.; Bacino C.A.; Safina N.P.; Bober M.B.; Proud V.K.; Funari T.; Wangler M.F.; Nevarez L.; Ala-Kokko L.; Wilcox W.R.; Eyre D.R.; Krakow D.; Cohn D.H.;
Am. J. Hum. Genet. 87:708-712(2010)
Cited for: VARIANTS FBCG1 ARG-796 AND ARG-1042;
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