Variant position: 1143 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 EPGERGLKGHRGFTGLQGLP GPPGPSGDQGASGPAGPSGPR
Mouse EQGERGLKGHRGFTGLQGLP GPPGPSGDQGASGPAGPSGPR
Rat EPGERGLKGHRGFTGLQGLP GPPGPSGDQGTSGPAGPSGPR
Bovine EAGERGLKGHRGFTGLQGLP GPPGPSGDQGASGPAGPSGPR
Xenopus laevis EAGERGQKGHRGFTGLQGLP GPPGSAGDQGATGPAGPAGPR
Xenopus tropicalis EAGERGQKGHRGFTGLQGLP GPPGTAGDQGASGPAGPGGPR
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.
Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.
Vissing H.; D'Alessio M.; Lee B.; Ramirez F.; Godfrey M.; Hollister D.W.;
J. Biol. Chem. 264:18265-18267(1989)
Cited for: VARIANT ACG2 SER-1143;
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.
Mortier G.R.; Weis M.; Nuytinck L.; King L.M.; Wilkin D.J.; De Paepe A.; Lachman R.S.; Rimoin D.L.; Eyre D.R.; Cohn D.H.;
J. Med. Genet. 37:263-271(2000)
Cited for: VARIANTS ACG2 SER-513; VAL-717; ALA-771; CYS-1110 AND SER-1143; VARIANT PLSD-T ASN-1390;
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.