Variant position: 842 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 QPGAKGEPGDAGAKGDAGPP GPAGPAGPPGPIGNVGAPGAK
Mouse QPGAKGEPGDTGVKGDAGPP GPAGPAGPPGPIGNVGAPGPK
Rat QPGAKGEPGDTGVKGDAGPP GPAGPAGPPGPIGNVGAPGPK
Bovine QPGAKGEPGDAGAKGDAGPP GPAGPAGPPGPIGNVGAPGPK
Chicken QPGAKGETGDAGAKGDAGPP GPAGPTGAPGPAGZVGAPGPK
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
823 – 823 4-hydroxyproline
841 – 841 4-hydroxyproline
850 – 850 4-hydroxyproline
859 – 859 4-hydroxyproline
862 – 862 5-hydroxylysine
Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA.
Bateman J.F.; Lamande S.R.; Dahl H.-H.M.; Chan D.; Cole W.G.;
J. Biol. Chem. 263:11627-11630(1988)
Cited for: VARIANT OI2 ARG-842;
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