Variant position: 877 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 PPGTPGPQGLLGAPGILGLP GSRGERGLPGVAGAVGEPGPL
Mouse APGTAGPQGLLGAPGILGLP GSRGERGLPGIAGALGEPGPL
Rat PPGTAGPQGLLGAPGILGLP GSRGERGQPGIAGALGEPGPL
Bovine PPGTPGPQGLLGAPGFLGLP GSRGERGLPGVAGSVGEPGPL
Chicken PPGTPGPQGILGAPGILGLP GSRGERGLPGIAGATGEPGPL
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
Two cysteine substitutions in the type I procollagen genes (COL1A1 and COL1A2) that cause lethal osteogenesis imperfecta. The location of glycine substitutions does not in any simple way predict their effects on protein function or phenotype.
Fertala A.; Westerhausen A.; Morris G.M.; Rooney J.E.; Prockop D.J.;
Cited for: VARIANT OI2 CYS-877;
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