Variant position: 909 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 AQGPPGATGFPGAAGRVGPP GSNGNPGPPGPPGPSGKDGPK
Mouse AQGPPGATGFPGAAGRVGPP GANGNPGPAGPPGPAGKDGPK
Rat AQGPPGATGFPGAAGRVGPP GSNGNPGPAGPPGPAGKDGPK
Bovine AQGPPGATGFPGAAGRVGPP GSNGNPGPPGPPGPSGKDGPK
Xenopus laevis AQGPAGATGFPGAAGRVGTP GPNGNPGPPGPPGSAGKEGPK
Xenopus tropicalis AQGPPGATGFPGAAGRVGPP GPNGNPGPSGAPGSAGKEGPK
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
201 – 1214 Triple-helical region
907 – 907 3-hydroxyproline
908 – 908 4-hydroxyproline
914 – 914 4-hydroxyproline
920 – 920 4-hydroxyproline
1 – 1219 Missing. In isoform 3.
A dominant mutation in the type II collagen gene (COL2A1) produces spondyloepimetaphyseal dysplasia (SEMD), Strudwick type.
Tiller G.E.; Weis M.A.; Lachman R.S.; Cohn D.H.; Rimoin D.L.; Eyre D.R.;
Cited for: VARIANTS SEMDSTWK VAL-897 AND CYS-909;
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
Tiller G.E.; Polumbo P.A.; Weis M.A.; Bogaert R.; Lachman R.S.; Cohn D.H.; Rimoin D.L.; Eyre D.R.;
Nat. Genet. 11:87-89(1995)
Cited for: VARIANTS SEMDSTWK VAL-492; CYS-504 AND CYS-909;
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.