Variant position: 667 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 AGPAGERGEQGAPGPSGFQG LPGPPGPPGEGGKPGDQGVPG
Mouse SGPAGERGEQGAPGPSGFQG LPGPPGPPGEGGKQGDQGIPG
Rat SGPAGERGEQGAPGPSGFQG LPGPPGPPGEGGKQGDQGIPG
Bovine AGPAGERGEQGAPGPSGFQG LPGPPGPPGEGGKPGDQGVPG
Xenopus laevis AGPAGERGEQGPPGPSGFQG LPGPPGSPGEGGKPGDQGVPG
Xenopus tropicalis AGPAGERGEQGPPGPSGFQG LPGPPGSPGEGGKPGDQGVPG
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.
Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.
Richards A.J.; Baguley D.M.; Yates J.R.W.; Lane C.; Nicol M.; Harper P.S.; Scott J.D.; Snead M.P.;
Am. J. Hum. Genet. 67:1083-1094(2000)
Cited for: VARIANT STL1 CYS-565; VARIANT DRRD PHE-667;
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;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.