Variant position: 822 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 GISGPPGPPGPAGKEGLRGP RGDQGPVGRTGEVGAVGPPGF
Mouse GIAGPPGPPGAAGKEGIRGP RGDQGPVGRTGETGASGPPGF
Rat GITGPPGPPGAAGKEGIRGP RGDQGPVGRTGEIGASGPPGF
Bovine GISGPPGPPGPAGKEGLRGP RGDQGPVGRSGETGASGPPGF
Chicken GITGPPGPPGPAGKDGPRGL RGDVGPVGRTGEQGIAGPPGF
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
Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.
Zhuang J.; Tromp G.; Kuivaniemi H.; Castells S.; Bugge M.; Prockop D.J.;
Hum. Mutat. 7:89-99(1996)
Cited for: VARIANTS OI1 ASP-211 AND SER-835; VARIANTS OI3 SER-337 AND SER-460; VARIANT HIS-822;
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