UniProtKB/SwissProt variant VAR

Receptor tyrosine-protein kinase erbB-2
Gene: ERBB2
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Variant information Variant position:

857
Type of variant:

US
Residue change:

From Asparagine (N) to Serine (S) at position 857 (N857S, p.Asn857Ser).
Physico-chemical properties:

Change from medium size and polar (N) to small size and polar (S)
BLOSUM score:

1
Variant description:

In OC; uncertain significance; somatic mutation.
Other resources:

Variant rs28933370 [ dbSNP | Ensembl ]

Sequence information Variant position:

857
Protein sequence length:

1255
Location on the sequence:

EDVRLVHRDLAARNVLVKSP N HVKITDFGLARLLDIDETEY
Residue conservation:

Human                         EDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEY

                              EDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEY

Mouse                         EEVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEY

Rat                           EDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEY

Sequence annotation in neighborhood:

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
Modified residue	877 – 877	Phosphotyrosine
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;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04626: Variant p.Asn857Ser