Sequence information
Variant position: 496 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 913 The length of the canonical sequence.
Location on the sequence:
PGPREPPPYQEPRPRGNPPH
S APCVPNGSALLLSNPAYRLL
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 PGPREPPPYQEPRPRGNPPHS APCVPNGSALLLSNPAYRLL
Chimpanzee PGPREPPPYQEPRPRGNPPHS APCVPNGSALLLSNPAYRLL
Mouse PGPREPPPYQEPRPRGTPPHS APCVPNGSALLLSNPAYRLL
Rat PGPREPPPYQEPRPRGTPTHS APCVPNGSALLLSNPAYRLL
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
Chain
19 – 913
Epithelial discoidin domain-containing receptor 1
Topological domain
439 – 913
Cytoplasmic
Region
470 – 499
Disordered
Compositional bias
476 – 496
Pro residues
Modified residue
484 – 484
Phosphotyrosine; by autocatalysis
Modified residue
513 – 513
Phosphotyrosine; by autocatalysis
Alternative sequence
244 – 913
Missing. In isoform 3.
Literature citations
Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-17; ALA-100; GLN-169; ASP-170; TRP-306 AND ALA-496;
Disclaimer:
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.