Variant position: 179 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 718 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 VLNQNTLRIKETAQAMAQLS RWDRGTNHLLFNMLPGGPPDY
Mouse VLNQNPLRIKETAQALAQLS RWDRGTNHLLFNMLPGAPPDY
Bovine LLNQNSLRVKETAQALAQLS RWDRGTNHLLFNMLPGGPPDY
Caenorhabditis elegans TPDKACIKIHISNGIASPNT TF----NSILFNV---GSP--
Drosophila LLNQNVFDKHLAGAALASLD FWDRGANHIIFNMLPGGAPSY
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
1 – 718 Exostosin-2
47 – 718 Lumenal
Genotype-phenotype correlation in hereditary multiple exostoses.
Francannet C.; Cohen-Tanugi A.; Le Merrer M.; Munnich A.; Bonaventure J.; Legeai-Mallet L.;
J. Med. Genet. 38:430-434(2001)
Cited for: VARIANTS EXT2 SER-179 AND ASN-227;
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.