Variant position: 839 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 ADGQPGAKGEPGDAGAKGDA GPPGPAGPAGPPGPIGNVGAP
Mouse ADGQPGAKGEPGDTGVKGDA GPPGPAGPAGPPGPIGNVGAP
Rat ADGQPGAKGEPGDTGVKGDA GPPGPAGPAGPPGPIGNVGAP
Bovine ADGQPGAKGEPGDAGAKGDA GPPGPAGPAGPPGPIGNVGAP
Chicken ADGQPGAKGETGDAGAKGDA GPPGPAGPTGAPGPAGZVGAP
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
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.
Nuytinck L.; Dalgleish R.; Spotila L.; Renard J.-P.; van Regemorter N.; de Paepe A.;
Hum. Genet. 97:324-329(1996)
Cited for: VARIANT OI2 SER-839;
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