Sequence information
Variant position: 857 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1255 The length of the canonical sequence.
Location on the sequence:
EDVRLVHRDLAARNVLVKSP
N HVKITDFGLARLLDIDETEY
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 EDVRLVHRDLAARNVLVKSPN HVKITDFGLARLLDIDETEY
EDVRLVHRDLAARNVLVKSPN HVKITDFGLARLLDIDETEY
Mouse EEVRLVHRDLAARNVLVKSPN HVKITDFGLARLLDIDETEY
Rat EDVRLVHRDLAARNVLVKSPN HVKITDFGLARLLDIDETEY
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
23 – 1255
Receptor tyrosine-protein kinase erbB-2
Topological domain
676 – 1255
Cytoplasmic
Domain
720 – 987
Protein kinase
Active site
845 – 845
Proton acceptor
Alternative sequence
771 – 883
AYVMAGVGSPYVSRLLGICLTSTVQLVTQLMPYGCLLDHVRENRGRLGSQDLLNWCMQIAKGMSYLEDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEYHADGGK -> TISNLFSNFAPRGPSACCEPTCWCHSGKGQDSLPREEWGRQRRFCLWGCRGEPRVLDTPGRSCPSAPPSSCLQPSLRQPLLLGPGPTRAGGSTQHLQRDTYGREPRVPGSGRASVNQKAKSAEALMCPQGAGKA. In isoform 6.
Literature citations
Lung cancer: intragenic ERBB2 kinase mutations in tumours.
Stephens P.; Hunter C.; Bignell G.; Edkins S.; Davies H.; Teague J.; Stevens C.; O'Meara S.; Smith R.; Parker A.; Barthorpe A.; Blow M.; Brackenbury L.; Butler A.; Clarke O.; Cole J.; Dicks E.; Dike A.; Drozd A.; Edwards K.; Forbes S.; Foster R.; Gray K.; Greenman C.; Halliday K.; Hills K.; Kosmidou V.; Lugg R.; Menzies A.; Perry J.; Petty R.; Raine K.; Ratford L.; Shepherd R.; Small A.; Stephens Y.; Tofts C.; Varian J.; West S.; Widaa S.; Yates A.; Brasseur F.; Cooper C.S.; Flanagan A.M.; Knowles M.; Leung S.Y.; Louis D.N.; Looijenga L.H.; Malkowicz B.; Pierotti M.A.; Teh B.; Chenevix-Trench G.; Weber B.L.; Yuen S.T.; Harris G.; Goldstraw P.; Nicholson A.G.; Futreal P.A.; Wooster R.; Stratton M.R.;
Nature 431:525-526(2004)
Cited for: INVOLVEMENT IN CANCER; VARIANT GASC SER-776; VARIANT OC SER-857; VARIANT GLM LYS-914; VARIANTS LNCR PRO-755; ALA-TYR-VAL-MET-774 INS AND VAL-GLY-SER-779 INS;
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] VAL-654; VAL-655; SER-768; ALA-1170 AND ASP-1216; VARIANT GASC SER-776; VARIANT OC SER-857;
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.