Variant position: 486 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 746 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 PYYYANLGLKPPSKFTAVIH A-VTPLVSQSQPVLKLLVAAAK
Mouse PYYYANLGLKPPSKFTAVIH A-VTPLVSQSQPVLKLLVAAA
Bovine PYYYANLGLKPPSKFTAVIH A-VTPLVSQSQPVLKLLVAAA
Caenorhabditis elegans -------------------- ---------------------
Drosophila PFLLNSMGAEPRHNYTAVIY VQIGAALGPNAALYKLVRTIT
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 – 746 Exostosin-1
29 – 746 Lumenal
486 – 486 A -> H. No effect on heparan-sulfate biosynthesis.
486 – 486 Missing. No effect on heparan-sulfate biosynthesis.
496 – 496 P -> H. No effect on heparan-sulfate biosynthesis.
496 – 496 Missing. No effect on heparan-sulfate biosynthesis.
Mutation analysis of hereditary multiple exostoses in the Chinese.
Xu L.; Xia J.; Jiang H.; Zhou J.; Li H.; Wang D.; Pan Q.; Long Z.; Fan C.; Deng H.-X.;
Hum. Genet. 105:45-50(1999)
Cited for: VARIANTS EXT1 VAL-486 AND LEU-496;
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.