Variant position: 1390 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 TANVQMTFLRLLSTEGSQNI TYHCKNSIAYLDEAAGNLKKA
Mouse TANVQMTFLRLLSTEGSQNI TYHCKNSIAYLDEAAGNLKKA
Rat TANVQMTFLRLLSTEGSQNI TYHCKNSIAYLDEAAGNLKKA
Bovine TANVQMTFLRLLSTEGSQNI TYHCKNSIAYLDEAAGNLKKA
Xenopus laevis TANIQMTFLRLLSTDASQNI TYHCKNSIAFMDEASGNLKKA
Xenopus tropicalis TANIQMTFLRLLSTDATQNI TYHCKNSIAFMDEASGNLKKA
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.
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;
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
Zankl A.; Neumann L.; Ignatius J.; Nikkels P.; Schrander-Stumpel C.; Mortier G.; Omran H.; Wright M.; Hilbert K.; Bonafe L.; Spranger J.; Zabel B.; Superti-Furga A.;
Am. J. Med. Genet. A 133:61-67(2005)
Cited for: VARIANTS PLSD-T PRO-1448; HIS-1469; VAL-1484 DEL AND GLY-1485; DISCUSSION OF VARIANT 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.