Variant position: 1113 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 AQGPMGPSGPAGARGIQGPQ GPRGDKGEAGEPGERGLKGHR
Mouse AQGPMGPSGPAGARGIAGPQ GPRGDKGESGEQGERGLKGHR
Rat AQGPMGPSGPAGARGIAGPQ GPRGDKGEAGEPGERGLKGHR
Bovine AQGPMGPAGPAGARGMPGPQ GPRGDKGETGEAGERGLKGHR
Xenopus laevis PQGPLGPSGPAGARGLAGPQ GPRGDKGEAGEAGERGQKGHR
Xenopus tropicalis PQGPLGPSGPAGARGLPGPQ GPRGDKGEAGEAGERGQKGHR
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.
An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.
Mundlos S.; Chan D.; McGill J.; Bateman J.F.;
Am. J. Med. Genet. 63:129-136(1996)
Cited for: VARIANT HYPOCHONDROGENESIS CYS-1113;
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