Variant position: 676 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1366 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 EKGEPGLRGEIGNPGRDGAR GAPGAVGAPGPAGATGDRGEA
Mouse EKGETGLRGDTGNTGRDGAR GIPGAVGAPGPAGASGDRGEA
Rat EKGETGLRGEIGNPGRDGAR GAPGAIGAPGPAGASGDRGEA
Bovine EKGETGLRGDIGSPGRDGAR GAPGAIGAPGPAGANGDRGEA
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
80 – 1119 Collagen alpha-2(I) chain
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.
Forlino A.; Zolezzi F.; Valli M.; Pignatti P.F.; Cetta G.; Brunelli P.C.; Mottes M.;
Hum. Mol. Genet. 3:2201-2206(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 663-746; VARIANT OI3 VAL-676;
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.
Bateman J.F.; Hannagan M.; Chan D.; Cole W.G.;
Biochem. J. 276:765-770(1991)
Cited for: VARIANT OI4 VAL-676;
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