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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00533: Variant p.Gly719Asp

Epidermal growth factor receptor
Gene: EGFR
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Variant information Variant position: help 719 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 Glycine (G) to Aspartate (D) at position 719 (G719D, p.Gly719Asp). 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 glycine (G) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help Found in a lung cancer sample. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 719 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 PNQALLRILKETEFKKIKVL G SGAFGTVYKGLWIPEGEKVK 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                         PNQALLRILKETEFKKIKVLGSGAFGTVYKGLWIPEGEKVK

Rhesus macaque                PNQALLRILKETEFKKIKVLGSGAFGTVYKGLWIPEGEKVK

Mouse                         PNQAHLRILKETEFKKIKVLGSGAFGTVYKGLWIPEGEKVK

Drosophila                    ANLCKLRIVKDAELRKGGVLGMGAFGRVYKGVWVPEGENVK

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 718 – 726
Cross 716 – 716 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross 737 – 737 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.
Mutagenesis 699 – 699 P -> A. Reduced phosphorylation.
Mutagenesis 700 – 700 N -> A. Abolishes phosphorylation.
Mutagenesis 704 – 704 L -> A. Abolishes phosphorylation.
Mutagenesis 705 – 705 R -> A. Abolishes phosphorylation.
Mutagenesis 706 – 706 I -> A. Abolishes phosphorylation.
Beta strand 712 – 720



Literature citations
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;
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.