Variant position: 318 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1487 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 AKGEAGAPGVKGESGSPGEN GSPGPMGPRGLPGERGRTGPA
Mouse AKGEAGAPGVKGESGSPGEN GSPGPMGPRGLPGERGRTGPA
Rat AKGEAGAPGVKGESGSPGEN GSPGPMGPRGLPGERGRTGPA
Bovine AKGEAGAPGVKGESGSPGEN GSPGPMGPRGLPGERGRTGPA
Xenopus laevis AKGEAGAAGAKGEGGATGEA GSPGPMGPRGLPGERGRPGSS
Xenopus tropicalis SKGEAGAAGAKGEGGATGEA GSPGPMGPRGLPGERGRPGAS
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
182 – 1241 Collagen alpha-1(II) chain
97 – 1237 Disordered
201 – 1214 Triple-helical region
299 – 299 5-hydroxylysine
308 – 308 5-hydroxylysine
299 – 299 O-linked (Gal...) hydroxylysine
308 – 308 O-linked (Gal...) hydroxylysine
1 – 1219 Missing. In isoform 3.
A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.
Richards A.J.; Meredith S.; Poulson A.; Bearcroft P.; Crossland G.; Baguley D.M.; Scott J.D.; Snead M.P.;
Invest. Ophthalmol. Vis. Sci. 46:663-668(2005)
Cited for: VARIANTS DRRD ARG-318 AND PHE-667;
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