UniProtKB/Swiss-Prot P04626: Variant p.Gly776Ser

Receptor tyrosine-protein kinase erbB-2
Gene: ERBB2
Chromosomal location: 17q11.2-q12
Variant information

Variant position:  776
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glycine (G) to Serine (S) at position 776 (G776S, p.Gly776Ser).
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 glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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 a gastric adenocarcinoma sample; somatic mutation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  776
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:   RENTSPKANKEILDEAYVMA  G VGSPYVSRLLGICLTSTVQL
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                         RENTSPKANKEILDEAYVMAGVGSPYVSRLLGICLTSTVQL

Mouse                         RENTSPKANKEILDEAYVMAGVGSPYVSRLLGICLTSTVQL

Rat                           RENTSPKANKEILDEAYVMAGVGSPYVSRLLGICLTSTVQL

Dog                           RENTSPKANKEILDEAYVMAGVGSPYVSRLLGICLTSTVQL

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.

TypePositionsDescription
Chain 23 – 1255 Receptor tyrosine-protein kinase erbB-2
Topological domain 676 – 1255 Cytoplasmic
Domain 720 – 987 Protein kinase


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: VARIANTS PRO-755; SER-776; ALA-TYR-VAL-MET-774 INS AND VAL-GLY-SER-779 INS; SER-857 AND LYS-914; INVOLVEMENT IN CANCER;

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; SER-776; SER-857; ALA-1170 AND ASP-1216;

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.