UniProtKB/SwissProt variant VAR

Variant information

Variant position:

857

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

US

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Asparagine (N) to Serine (S) at position 857 (N857S, p.Asn857Ser).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

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

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

1

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description:

In OC; somatic mutation; unknown pathological significance.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs28933370 [ dbSNP | Ensembl ]

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                         EDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEY

                              EDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEY

Mouse                         EEVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEY

Rat                           EDVRLVHRDLAARNVLVKSPNHVKITDFGLARLLDIDETEY

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04626: Variant p.Asn857Ser