Variant position: 267 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 PPGKPGDDGEAGKPGKAGER GPPGPQGARGFPGTPGLPGVK
Mouse PAGKPGDDGEAGKPGKSGER GLPGPQGARGFPGTPGLPGVK
Rat PAGKPGDDGEAGKPGKAGER GLPGPQGARGFPGTPGLPGVK
Bovine PPGKPGDDGEAGKPGKSGER GPPGPQGARGFPGTPGLPGVK
Xenopus laevis PSGKPGDDGEAGKPGKSGER GPPGPQGARGFPGTPGLPGVK
Xenopus tropicalis PAGKPGDDGEAGKPGKSGER GPPGPQGARGFPGTPGLPGVK
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
287 – 287 5-hydroxylysine
287 – 287 O-linked (Gal...) hydroxylysine
1 – 1219 Missing. In isoform 3.
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).
Koerkkoe J.; Ritvaniemi P.; Haataja L.; Kaeaeriaeinen H.; Kivirikko K.I.; Prockop D.J.; Ala-Kokko L.;
Am. J. Hum. Genet. 53:55-61(1993)
Cited for: VARIANT STL1O ASP-267;
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