Variant position: 547 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 KGAPGERGPSGLAGPKGANG DPGRPGEPGLPGARGLTGRPG
Mouse KGAPGERGPSGLTGPKGANG DPGRPGEPGLPGARGLTGRPG
Rat KGAPGERGPSGLAGPKGANG DPGRPGEPGLPGARGLTGRPG
Bovine KGAPGERGPSGLAGPKGANG DPGRPGEPGLPGARGLTGRPG
Xenopus laevis KGAPGERGVPGLGGPKGGNG DPGRPGEPGLPGARGLTGRPG
Xenopus tropicalis KGAPGERGVPGLGGPKGANG DPGRPGEPGLPGARGLTGRPG
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.
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father.
Forzano F.; Lituania M.; Viassolo A.; Superti-Furga V.; Wildhardt G.; Zabel B.; Faravelli F.;
Am. J. Med. Genet. A 143:2815-2820(2007)
Cited for: VARIANT ACG2 VAL-547;
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