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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21860: Variant p.Ser717Leu

Receptor tyrosine-protein kinase erbB-3
Gene: ERBB3
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Variant information Variant position: help 717
Type of variant: help LB/B
Residue change: help From Serine (S) to Leucine (L) at position 717 (S717L, p.Ser717Leu).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 717
Protein sequence length: help 1342
Location on the sequence: help NKVLARIFKETELRKLKVLG S GVFGTVHKGVWIPEGESIKI
Residue conservation: help
Human                         NKVLARIFKETELRKLKVLGSGVFGTVHKGVWIPEGESIKI

Mouse                         NKVLARIFKETELRKLKVLGSGVFGTVHKGIWIPEGESIKI

Rat                           NKVLARIFKETELRKLKVLGSGVFGTVHKGIWIPEGESIKI

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 1342 Receptor tyrosine-protein kinase erbB-3
Topological domain 665 – 1342 Cytoplasmic
Domain 709 – 966 Protein kinase
Binding site 715 – 723
Alternative sequence 184 – 1342 Missing. In isoform 2.
Alternative sequence 332 – 1342 Missing. In isoform 3.
Beta strand 709 – 717



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] TYR-20; LEU-30; MET-104; ILE-204; TRP-683; LEU-717; THR-744; ARG-998; CYS-1119; HIS-1127; ILE-1177 AND LYS-1254;
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.