Variant position: 516 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 EPGGVGPIGPPGERGAPGNR GFPGQDGLAGPKGAPGERGPS
Mouse EPGGAGPIGPPGERGAPGNR GFPGQDGLAGPKGAPGERGPS
Rat EPGGAGPIGPPGERGAPGNR GFPGQDGLAGPKGAPGERGPS
Bovine EPGGAGPAGPPGERGAPGNR GFPGQDGLAGPKGAPGERGPS
Xenopus laevis EPGAAGPNGPPGERGAPGNR GFPGQDGLAGPKGAPGERGVP
Xenopus tropicalis EPGAAGPLGPPGERGAPGNR GFPGQDGLAGPKGAPGERGVP
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
1 – 1219 Missing. In isoform 3.
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
Faivre L.; Le Merrer M.; Douvier S.; Laurent N.; Thauvin-Robinet C.; Rousseau T.; Vereecke I.; Sagot P.; Delezoide A.-L.; Coucke P.; Mortier G.;
Am. J. Med. Genet. A 126:308-312(2004)
Cited for: VARIANT ACG2 ASP-516;
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