Variant position: 719 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 757 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 FYEGPELVADSNVVLDTTMR GGRLGVFCFSQENIIWANLRY
Mouse FYEGPELVADSNVVLDTAMR GGRLGVFCFSQENIIWANLRY
Rat FYEGPELVADSNVVLDTAMR GGRLGVFCFSQENIIWANLRY
Bovine FYEGPELVADSNVILDTTMR GGRLGVFCFSQENIIWANLRY
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
21 – 757 Cartilage oligomeric matrix protein
532 – 746 TSP C-terminal
527 – 757 Mediates cell survival and induction of the IAP family of survival proteins
520 – 741
716 – 728
Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
Mabuchi A.; Haga N.; Ikeda T.; Manabe N.; Ohashi H.; Takatori Y.; Nakamura K.; Ikegawa S.;
Am. J. Med. Genet. 104:135-139(2001)
Cited for: VARIANT PSACH ASP-719;
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