Variant position: 2266 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2415 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 PEEQEFVNNNAQDYQWIGLN DRTIEGDFRWSDGHPMQFENW
Mouse PEEQEFVNKNAQDYQWIGLN DRTIEGDFRWSDGHSLQFEKW
Rat PEEQEFVNKNAQDYQWIGLN DRTIEGDFRWSDGHSLQFEKW
Bovine PEEQEFVNNNAQDYQWIGLN DKTIEGDFRWSDGHSLQFENW
Chicken PEEQEFVNSHAQDYQWIGLS DRAVENDFRWSDGHSLQFENW
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.
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
Tompson S.W.; Merriman B.; Funari V.A.; Fresquet M.; Lachman R.S.; Rimoin D.L.; Nelson S.F.; Briggs M.D.; Cohn D.H.; Krakow D.;
Am. J. Hum. Genet. 84:72-79(2009)
Cited for: VARIANT SEMD-ACAN ASN-2266; CHARACTERIZATION OF VARIANT SEMD-ACAN ASN-2266;
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.