Sequence information
Variant position: 157 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 401 The length of the canonical sequence.
Location on the sequence:
EVLADFQRREPYKFLQFAYF
K ANNLPKAIAAAHTFLLKHPD
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 EVLADFQRREPYKFLQFAYFK ANNLPKAIAAAHTFLLKHPD
Mouse SVLADFQQREPYKFLQFAYFK ANDLPKAIAAAHTYLLKHPD
Chicken ELLEEFQRREPYKYLQFAYFK ANNLPKAIAAAHTFLLKHPD
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
Chain
27 – 401
Cartilage-associated protein
Literature citations
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk F.S.; Nesbitt I.M.; Nikkels P.G.J.; Dalton A.; Bongers E.M.H.F.; van de Kamp J.M.; Hilhorst-Hofstee Y.; Den Hollander N.S.; Lachmeijer A.M.A.; Marcelis C.L.; Tan-Sindhunata G.M.B.; van Rijn R.R.; Meijers-Heijboer H.; Cobben J.M.; Pals G.;
Eur. J. Hum. Genet. 17:1560-1569(2009)
Cited for: VARIANTS OI7 GLU-13 AND GLU-157;
Disclaimer:
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.