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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00533: Variant p.Leu861Gln

Epidermal growth factor receptor
Gene: EGFR
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Variant information Variant position: help 861 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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: help From Leucine (L) to Glutamine (Q) at position 861 (L861Q, p.Leu861Gln). 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: help Change from medium size and hydrophobic (L) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help Found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 861 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1210 The length of the canonical sequence.
Location on the sequence: help RNVLVKTPQHVKITDFGLAK L LGAEEKEYHAEGGKVPIKWM 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         RNVLVKTPQHVKITDFGLAKLLGAEEKEYHAEGGKVPIKWM

Rhesus macaque                RNVLVKTPQHVKITDFGLAKLLGAEEKEYHAEGGKVPIKWM

Mouse                         RNVLVKTPQHVKITDFGLAKLLGAEEKEYHAEGGKVPIKWM

Drosophila                    RNVLVQTPSLVKITDFGLAKLLSSDSNEYKAAGGKMPIKWL

Sequence annotation in neighborhood: help 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 25 – 1210 Epidermal growth factor receptor
Topological domain 669 – 1210 Cytoplasmic
Domain 712 – 979 Protein kinase
Binding site 855 – 855
Modified residue 869 – 869 Phosphotyrosine
Cross 867 – 867 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence 406 – 1210 Missing. In isoform 2.
Alternative sequence 629 – 1210 Missing. In isoform 4.
Alternative sequence 706 – 1210 Missing. In isoform 3.
Mutagenesis 525 – 1210 Missing. Increased EGF binding.
Turn 859 – 865



Literature citations
High frequency of epidermal growth factor receptor mutations with complex patterns in non-small cell lung cancers related to gefitinib responsiveness in Taiwan.
Huang S.F.; Liu H.P.; Li L.H.; Ku Y.C.; Fu Y.N.; Tsai H.Y.; Chen Y.T.; Lin Y.F.; Chang W.C.; Kuo H.P.; Wu Y.C.; Chen Y.R.; Tsai S.F.;
Clin. Cancer Res. 10:8195-8203(2004)
Cited for: VARIANTS ALA-709; GLY-709; CYS-719; SER-719; 746-GLU--ALA-750 DEL; 746-GLU--THR-751 DELINS ALA; 746-GLU--SER-752 DELINS ASP; 747-LEU--THR-751 DEL; ILE-768; MET-769; VAL-833; LEU-835; VAL-838; ARG-858 AND GLN-861; Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features.
Tam I.Y.S.; Chung L.P.; Suen W.S.; Wang E.; Wong M.C.M.; Ho K.K.; Lam W.K.; Chiu S.W.; Girard L.; Minna J.D.; Gazdar A.F.; Wong M.P.;
Clin. Cancer Res. 12:1647-1653(2006)
Cited for: VARIANTS ALA-709; LYS-709; ALA-719; ASP-719; CYS-719; SER-719; SER-724; LYS-734; GLU-746 DEL; PHE-747; 747-LEU--GLU-749 DEL; PRO-748; 752-SER--ILE-759 DEL; ARG-787; MET-790; VAL-833; LEU-834; MET-858; ARG-858; GLN-861 AND GLU-873; POSSIBLE INVOLVEMENT IN LUNG CANCER; Distinctive activation patterns in constitutively active and gefitinib-sensitive EGFR mutants.
Chen Y.R.; Fu Y.N.; Lin C.H.; Yang S.T.; Hu S.F.; Chen Y.T.; Tsai S.F.; Huang S.F.;
Oncogene 25:1205-1215(2006)
Cited for: CHARACTERIZATION OF VARIANTS ALA-709; GLY-709; SER-719; ILE-768; VAL-833; LEU-835; VAL-838; ARG-858 AND GLN-861;
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.