Variant position: 569 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1464 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 PDGKTGPPGPAGQDGRPGPP GPPGARGQAGVMGFPGPKGAA
Mouse PDGKTGPPGPAGQDGRPGPA GPPGARGQAGVMGFPGPKGTA
Rat PDGKTGPPGPAGQDGRPGPA GPPGARGQAGVMGFPGPKGTA
Bovine PDGKTGPPGPAGQDGRPGPP GPPGARGQAGVMGFPGPKGAA
Chicken PDGKTGPPGPAGQDGRPGPA GPPGARGQAGVMGFPGPKGAA
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
162 – 1218 Collagen alpha-1(I) chain
179 – 1192 Triple-helical region
556 – 556 4-hydroxyproline
565 – 565 4-hydroxyproline
571 – 571 4-hydroxyproline
583 – 583 4-hydroxyproline
Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.
Bateman J.F.; Chan D.; Walkers I.D.; Rogers J.G.; Cole W.G.;
J. Biol. Chem. 262:7021-7027(1987)
Cited for: VARIANT OI2 ARG-569;
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